ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000291
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55027
ClinVar RCV Id:
RCV000112199
RCV000162771
RCV000212177
RCV003150940
RCV004554670
RCV001083561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu1282Val
CA002478
NM_007300.4:c.3845A>T