ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000443
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55058
ClinVar RCV Id:
RCV000480977
RCV000509595
RCV001339859
RCV004554671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile1318Val
CA002531
NM_007300.4:c.3952A>G