Allele Registry

Canonical Allele Identifier: PA2829122352

Gene: ACAT1 HGNC NCBI

ClinVar RCV:

RCV000002975

ClinVar Variation:

2841

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373608.1:p.Glu246del	CA252466 NM_001386679.1:c.738_740del