Allele Registry

Canonical Allele Identifier: PA111060

Gene: ABCG8 HGNC NCBI

ClinVar RCV:

RCV000005261

ClinVar Variation:

4973

HGVS (amino-acid)	Matching Registered Transcripts
NP_071882.1:p.Leu596Arg	CA253368 NM_022437.3:c.1787T>G