Allele Registry

Canonical Allele Identifier: PA658809095

Gene: ABCG8 HGNC NCBI

ClinVar Allele:

491943

ClinVar RCV:

RCV000596299

RCV000764410

RCV002358659

RCV003139895

RCV003905542

ClinVar Variation:

500519

HGVS (amino-acid)	Matching Registered Transcripts
NP_071882.1:p.Pro387Leu	CA1637324 NM_022437.3:c.1160C>T