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: PA2828551421

Gene: GNE HGNC NCBI

Linked Data

ClinVar Variation Id: 6032

ClinVar RCV Id: RCV000006403 RCV000724337

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001361727.1:p.Ala401Val