Canonical Allele Identifier: PA2826822612
Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 1493261
ClinVar RCV Id: RCV001984237 RCV003264376
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001280034.1:p.Thr380Met
CA4276159
NM_001293105.2:c.1139C>T