ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA339070
Gene: TP53
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.3413823975
Score
-0.725751137
Score
-0.7472679789
Score
1.0616564193
Score
-0.641056291
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000200055
RCV000571787
RCV002271460
RCV002288816
ClinVar Variation:
216466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000537.3:p.Leu130Phe
CA339065
NM_000546.6:c.388C>T