ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693116
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54942
ClinVar RCV Id:
RCV000048260
RCV000077553
RCV000130630
RCV001251417
RCV003226902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu1162Val
CA002319
NM_007297.4:c.3484T>G