ClinGen Allele Registry
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Canonical Allele Identifier:
PA916000494
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182079
ClinVar RCV Id:
RCV000509776
RCV000505770
RCV000637725
RCV000662402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Gln1327Arg
CA002552
NM_007300.4:c.3980A>G