ClinGen Allele Registry
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Canonical Allele Identifier:
PA645449988
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000220358
RCV000779900
RCV001853536
RCV002510823
ClinVar Variation:
231051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1056Phe
CA10580578
NM_007294.4:c.3167C>T