Canonical Allele Identifier: PA915993764
Gene: GLUD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 650460
ClinVar RCV Id: RCV000805619
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005262.1:p.Pro394Leu
CA5587506
NM_005271.5:c.1181C>T