ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829122311
Gene: ACAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373608.1:p.Glu153del
CA6263207
NM_001386679.1:c.459_461del