Allele Registry

Canonical Allele Identifier: PA1139668058

Gene: ACAT1 HGNC NCBI

ClinVar RCV:

RCV000844775

ClinVar Variation:

666470

HGVS (amino-acid)	Matching Registered Transcripts
NP_000010.1:p.Glu85del	CA228399187 NM_000019.4:c.254_256del