ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA267878
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54468
ClinVar RCV Id:
RCV000111774
RCV000213201
RCV001351015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly707Asp
CA001399
NM_007294.4:c.2120G>A