Allele Registry

Canonical Allele Identifier: PA2499257605

Gene: ACAT1 HGNC NCBI

ClinVar RCV:

RCV000844805

ClinVar Variation:

666499

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373606.1:p.Glu252del	CA6263207 NM_001386677.1:c.756_758del