ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999519
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
491061
ClinVar RCV Id:
RCV000583019
RCV000588879
RCV000806646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu1134Lys
CA10595178
NM_007300.4:c.3400G>A