ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829122210
Gene: ACAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373607.1:p.Ile282Val
CA6263370
NM_001386678.1:c.844A>G