ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579952743
Gene: TP53
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
2.2944679544
Score
0.329548262
Score
0.604313961
Score
0.297361023
Score
0.099774785
Score
0.662508449
Score
0.243442566
Score
0.056757552
Score
0.412995652
Score
0.349834138
Score
0.308282451
Score
-1.7433651562
Score
0.603696108
Score
0.704216759
Score
0.052658482
Score
0.720513298
Score
0.989337083
Score
-0.179499467
Score
0.483757623
Score
0.619628123
Score
0.587859782
Score
0.477848377
Score
0.370963641
Score
0.548266728
Score
0.477459305
Score
0.834472821
Score
0.290085794
Score
0.406721296
Score
0.184509045
Score
0.18586264
Score
0.335990127
Score
0.558009502
Score
0.22612371
Score
1.6616517079
Score
0.753765542
Score
0.323723476
Score
0.381220176
Score
0.311271033
Score
-0.016342607
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000229442
RCV000418894
RCV000419610
RCV000420292
RCV000420936
RCV000421633
RCV000424795
RCV000425414
RCV000425773
RCV000426089
RCV000430314
RCV000430964
RCV000431663
RCV000432304
RCV000432999
RCV000434831
RCV000435488
RCV000436124
RCV000436850
RCV000438849
RCV000441018
RCV000441674
RCV000443867
RCV000444130
RCV000444805
RCV000445077
RCV002378977
RCV004020765
ClinVar Variation:
237954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000537.3:p.Arg248Pro
CA10583676
NM_000546.6:c.743G>C