ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060112
Gene: BRCA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000215042
RCV000509623
RCV001854737
ClinVar Variation:
234575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Val1283Ala
CA10577468
NM_000059.4:c.3848T>C