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: PA2827024398

Gene: GLUD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16124

ClinVar RCV Id: RCV000017504

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305830.1:p.Gly332Ser	CA257426 NM_001318901.1:c.994G>A