Canonical Allele Identifier: PA2829122192
Gene: ACAT1 HGNC NCBI
ClinVar RCV:
RCV000002975
ClinVar Variation:
2841
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373607.1:p.Glu240del
CA252466
NM_001386678.1:c.720_722del