ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645450047
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230059
ClinVar RCV Id:
RCV000221833
RCV001374017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1092Lys
CA10580570
NM_007294.4:c.3274G>A