ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573222114
Gene: CPT1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1516044
ClinVar RCV Id:
RCV002023655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001867.2:p.Tyr487Asp
CA223371829
NM_001876.4:c.1459T>G