ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA344990
Gene: CPT1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000055870
ClinVar Variation:
65657
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027017.1:p.Thr314Ile
CA344989
NM_001031847.3:c.941C>T