Allele Registry

Canonical Allele Identifier: PA275333

Gene: ACAT1 HGNC NCBI

ClinVar RCV:

RCV000179237

RCV000723373

RCV004020139

ClinVar Variation:

198030

HGVS (amino-acid)	Matching Registered Transcripts
NP_000010.1:p.Asn158Ser	CA275332 NM_000019.4:c.473A>G