Canonical Allele Identifier: PA101750
Gene: GUSB HGNC NCBI
ClinVar RCV:
RCV000000945
ClinVar Variation:
897
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000172.2:p.Arg611Trp
CA339841
NM_000181.4:c.1831C>T