Canonical Allele Identifier: PA2826822361
Gene: GUSB HGNC NCBI
ClinVar RCV:
RCV000000950
ClinVar Variation:
902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001280033.1:p.Arg387Leu
CA339849
NM_001293104.2:c.1160G>T