ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100074
Gene: CPT1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001867.2:p.Arg123Cys
CA221862
NM_001876.4:c.367C>T