ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA168950
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54581
ClinVar RCV Id:
RCV000111877
RCV000131949
RCV001324477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly828Ser
CA001653
NM_007294.4:c.2482G>A