Canonical Allele Identifier: PA2580260248
Gene: CPT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2144415
ClinVar RCV Id: RCV003068387
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001867.2:p.Pro513Leu
CA6152281
NM_001876.4:c.1538C>T
CA645575728
NM_001876.4:c.1537_1538delinsTT