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: PA2826742956

Gene: SLC25A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420910

ClinVar RCV Id: RCV000481788

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274316.1:p.Asn116_Ile119delinsLysThrSer	CA16621035 NM_001287387.2:c.348_356delinsGACCTC