Allele Registry

Canonical Allele Identifier: PA1139730276

Gene: ABCC8 HGNC NCBI

ClinVar RCV:

RCV001279204

RCV002480912

ClinVar Variation:

991062

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338226.1:p.Trp231Ser	CA379778687 NM_001351297.2:c.692G>C