ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449176
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233404
ClinVar RCV Id:
RCV000215863
RCV001049535
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala794Val
CA10580620
NM_007294.4:c.2381C>T