Canonical Allele Identifier: PA2826822236
Gene: GUSB HGNC NCBI
ClinVar RCV:
RCV000000954
ClinVar Variation:
906
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001280033.1:p.Lys160Asn
CA339853
NM_001293104.2:c.480G>C
CA367644496
NM_001293104.2:c.480G>T