Canonical Allele Identifier: PA2826687846
Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 2170077
ClinVar RCV Id: RCV003085155

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001271219.1:p.Ile483Thr
CA367637214
NM_001284290.2:c.1448T>C