ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689241
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246451
ClinVar RCV Id:
RCV000235392
RCV002392734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys458Arg
CA10584572
NM_007297.4:c.1373A>G