Allele Registry

Canonical Allele Identifier: PA916030840

Gene: ABCC8 HGNC NCBI

ClinVar RCV:

RCV000029251

RCV002052023

ClinVar Variation:

35605

1526003

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338224.1:p.Phe536Leu	CA213438 NM_001351295.2:c.1606T>C CA379766367 NM_001351295.2:c.1608T>G CA379766368 NM_001351295.2:c.1608T>A