ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499276220
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1022374
ClinVar RCV Id:
RCV001322268
RCV003158732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu1346Gly
CA10593884
NM_007300.4:c.4037A>G