ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829692480
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54814
ClinVar RCV Id:
RCV000112041
RCV001363803
RCV002444513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Val1041Asp
CA002111
NM_007297.4:c.3122T>A