Allele Registry

Canonical Allele Identifier: PA2828052719

Gene: ABCG8 HGNC NCBI

ClinVar RCV:

RCV000180363

RCV000289049

RCV001515080

RCV002345628

ClinVar Variation:

198902

HGVS (amino-acid)	Matching Registered Transcripts
NP_001344250.1:p.Thr399Lys	CA203669 NM_001357321.2:c.1196C>A