ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA165143
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54956
ClinVar RCV Id:
RCV000048274
RCV000129819
RCV000112148
RCV001569902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1219Lys
CA002341
NM_007294.4:c.3655G>A