Allele Registry

Canonical Allele Identifier: PA252467

Gene: ACAT1 HGNC NCBI

ClinVar RCV:

RCV000002975

ClinVar Variation:

2841

HGVS (amino-acid)	Matching Registered Transcripts
NP_000010.1:p.Glu345del	CA252466 NM_000019.4:c.1035_1037del