ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825004400
Gene: ACAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000010.1:p.Glu88Ala
CA382506513
NM_000019.4:c.263A>C