ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA344963
Gene: CPT1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001027017.1:p.Arg447Ter
NM_001031847.3:c.1339C>T