Allele Registry

Canonical Allele Identifier: PA248484

Gene: ABCC8 HGNC NCBI

ClinVar RCV:

RCV000009665

RCV000201911

ClinVar Variation:

9097

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274103.1:p.Glu1507Lys	CA248483 NM_001287174.3:c.4519G>A