Canonical Allele Identifier: PA2826822618
Gene: GUSB HGNC NCBI
ClinVar RCV:
RCV000000945
ClinVar Variation:
897
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001280034.1:p.Arg392Trp
CA339841
NM_001293105.2:c.1174C>T