ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829121997
Gene: ACAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373606.1:p.Thr168Ala
CA6263147
NM_001386677.1:c.502A>G