ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449223
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232385
ClinVar RCV Id:
RCV000217280
RCV000590056
RCV001853587
RCV003997968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Arg823Ile
CA10580614
NM_007294.4:c.2468G>T