Canonical Allele Identifier: PA252467
Gene: ACAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2841
ClinVar RCV Id: RCV000002975
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000010.1:p.Glu345del
CA252466
NM_000019.4:c.1035_1037del