ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691585
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141950
ClinVar RCV Id:
RCV000130679
RCV000500522
RCV000793766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser839Cys
CA001739
NM_007297.4:c.2516C>G