ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915953625
Gene: ACAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000010.1:p.Ser390Pro
CA382508700
NM_000019.4:c.1168T>C