Allele Registry

Canonical Allele Identifier: PA658809118

Gene: ABCG8 HGNC NCBI

ClinVar Allele:

492791

ClinVar RCV:

RCV000593013

RCV003139898

RCV003323628

RCV004024818

ClinVar Variation:

501367

HGVS (amino-acid)	Matching Registered Transcripts
NP_071882.1:p.Ala550Thr	CA1637577 NM_022437.3:c.1648G>A