ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573222081
Gene: CPT1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1349562
ClinVar RCV Id:
RCV002051107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001867.2:p.Ser442Tyr
CA381631319
NM_001876.4:c.1325C>A