ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340857
Gene: CPT1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009633
ClinVar Variation:
9066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027017.1:p.Tyr498Cys
CA340856
NM_001031847.3:c.1493A>G