ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999130
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231051
ClinVar RCV Id:
RCV000220358
RCV000779900
RCV001853536
RCV002510823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1056Phe
CA10580578
NM_007300.4:c.3167C>T