ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499227642
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1047323
ClinVar RCV Id:
RCV001352019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Val144Ala
CA387756993
NM_000059.4:c.431T>C