Canonical Allele Identifier: PA2826822473
Gene: GUSB HGNC NCBI
ClinVar RCV:
RCV000000954
ClinVar Variation:
906
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001280034.1:p.Lys131Asn
CA339853
NM_001293105.2:c.393G>C
CA367644496
NM_001293105.2:c.393G>T