ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827605006
Gene: ABCC8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001956958
ClinVar Variation:
1464709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338225.1:p.Arg1420Ser
CA379786677
NM_001351296.2:c.4258C>A