ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829123484
Gene: ACAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373618.1:p.Lys113Gln
CA6263169
NM_001386689.1:c.337A>C