ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579757468
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
865129
ClinVar RCV Id:
RCV001072484
RCV002554645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys38Glu
CA10601933
NM_007294.4:c.112A>G