Canonical Allele Identifier: PA357998
Gene: ACAT1 HGNC NCBI
ClinVar RCV:
RCV000210547
ClinVar Variation:
225062
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000010.1:p.Asp253Asn
CA357997
NM_000019.4:c.757G>A