ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220229
Gene: ACAT1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000010.1:p.Gln272Ter
NM_000019.4:c.814C>T