ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829693650
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96918
ClinVar RCV Id:
RCV000083039
RCV000687405
RCV002362735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys1243Thr
CA002494
NM_007297.4:c.3728A>C