ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA100217
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_001867.2:p.Tyr498Cys
CA340856
NM_001876.4:c.1493A>G