ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139671813
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
945568
ClinVar RCV Id:
RCV001216233
RCV003158509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Val778Asp
CA387771549
NM_000059.4:c.2333T>A