ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499227500
Gene: BRCA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001310069
ClinVar Variation:
1012165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser231Asp
CA2082758897
NM_000059.4:c.691_692delinsGA