Canonical Allele Identifier: PA101681
Gene: GUSB HGNC NCBI
ClinVar RCV:
RCV000000943
ClinVar Variation:
895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000172.2:p.Arg216Trp
CA339839
NM_000181.4:c.646C>T