ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028443
Gene: CPT2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317518.1:p.Arg167Gln
CA858998
NM_001330589.2:c.500G>A