ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654300
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441364
ClinVar RCV Id:
RCV000510063
RCV000759486
RCV001204569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu347Gln
CA8589954
NM_007294.4:c.1040T>A