Canonical Allele Identifier: PA2826687785
Gene: GUSB HGNC NCBI
ClinVar RCV:
RCV000000947
ClinVar Variation:
899
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001271219.1:p.Tyr349Cys
CA339843
NM_001284290.2:c.1046A>G