ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829121984
Gene: ACAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373606.1:p.Leu140Arg
CA382506867
NM_001386677.1:c.419T>G