ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997709
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
665745
ClinVar RCV Id:
RCV000824094
RCV003158255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Lys748Glu
CA058714
NM_007300.4:c.2242A>G