Canonical Allele Identifier: PA2826822263
Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 894
ClinVar RCV Id: RCV000000942 RCV000170573
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001280033.1:p.Arg192Cys
CA199699
NM_001293104.2:c.574C>T