ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827604790
Gene: ABCC8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002010847
ClinVar Variation:
1501932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338225.1:p.Ala1184Val
CA379797331
NM_001351296.2:c.3551C>T