ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829707512
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
867650
ClinVar RCV Id:
RCV001076388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Lys598Glu
CA10591322
NM_007298.3:c.1792A>G