ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996490
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182090
ClinVar RCV Id:
RCV000159869
RCV000166848
RCV000471872
RCV003998430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Phe486Ile
CA000975
NM_007300.4:c.1456T>A