Allele Registry

Canonical Allele Identifier: PA2828052686

Gene: ABCG8 HGNC NCBI

ClinVar Allele:

289409

ClinVar RCV:

RCV000333238

RCV000595016

RCV002436203

RCV002519974

RCV003950162

ClinVar Variation:

336075

HGVS (amino-acid)	Matching Registered Transcripts
NP_001344250.1:p.Cys373Arg	CA1637285 NM_001357321.2:c.1117T>C