Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2573200881

Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1495814

ClinVar RCV Id: RCV002015370

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317518.1:p.Tyr252His	CA859042 NM_001330589.2:c.754T>C