ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579950697
Gene: TP53
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.0360656613
Score
0.7368238274
Score
-1.1311585333
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000562179
RCV001858143
RCV002289792
ClinVar Variation:
480749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000537.3:p.Ser378Cys
CA397830603
NM_000546.6:c.1133C>G