Allele Registry

Canonical Allele Identifier: PA645393652

Gene: ACAT1 HGNC NCBI

ClinVar RCV:

RCV000239383

ClinVar Variation:

252925

HGVS (amino-acid)	Matching Registered Transcripts
NP_000010.1:p.Ser218Phe	CA10586129 NM_000019.4:c.653C>T