ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100195
Gene: CPT1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000079911
RCV000551382
RCV000714476
RCV000714477
RCV003415824
RCV004018983
ClinVar Variation:
65644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001867.2:p.Pro479Leu
CA221853
NM_001876.4:c.1436C>T