ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000063
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54982
ClinVar RCV Id:
RCV000048305
RCV000130029
RCV000112166
RCV000212175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr1242Ala
CA002391
NM_007300.4:c.3724A>G