ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829122370
Gene: ACAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373608.1:p.Ile288Val
CA6263370
NM_001386679.1:c.862A>G