Canonical Allele Identifier: PA915961212
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 346793
ClinVar RCV Id: RCV000272591 RCV000329970 RCV004530401 RCV002523458
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Met241Val
CA2499874
NM_000158.4:c.721A>G