ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829688163
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_009228.2:p.Leu300Gln
CA8589954
NM_007297.4:c.899T>A