ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999333
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54820
ClinVar RCV Id:
RCV000112047
RCV000166428
RCV001347452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Gln1096Arg
CA002120
NM_007300.4:c.3287A>G