ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000320
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232341
ClinVar RCV Id:
RCV000222247
RCV002298538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu1288Gln
CA10580547
NM_007300.4:c.3862G>C