Canonical Allele Identifier: PA2829123720
Gene: ACAT1 HGNC NCBI
ClinVar RCV:
RCV000002975
ClinVar Variation:
2841
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373619.1:p.Glu255del
CA252466
NM_001386690.1:c.765_767del