Allele Registry

Canonical Allele Identifier: PA1139668092

Gene: ACAT1 HGNC NCBI

ClinVar RCV:

RCV000844805

ClinVar Variation:

666499

HGVS (amino-acid)	Matching Registered Transcripts
NP_000010.1:p.Glu252del	CA6263207 NM_000019.4:c.756_758del