Allele Registry

Canonical Allele Identifier: PA2828052993

Gene: ABCG8 HGNC NCBI

ClinVar Allele:

20012

ClinVar RCV:

RCV000005261

ClinVar Variation:

4973

HGVS (amino-acid)	Matching Registered Transcripts
NP_001344250.1:p.Leu595Arg	CA253368 NM_001357321.2:c.1784T>G