Canonical Allele Identifier: PA2573164222
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_000172.2:p.Thr599Met
CA4276159
NM_000181.4:c.1796C>T