Allele Registry

Canonical Allele Identifier: PA275376

Gene: ACAT1 HGNC NCBI

ClinVar RCV:

RCV000179698

RCV000844797

ClinVar Variation:

198381

HGVS (amino-acid)	Matching Registered Transcripts
NP_000010.1:p.Arg208Gln	CA275375 NM_000019.4:c.623G>A