Canonical Allele Identifier: PA916014199
Gene: GUSB HGNC NCBI
ClinVar RCV:
RCV000000946
ClinVar Variation:
898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001271219.1:p.Pro148Ser
CA339842
NM_001284290.2:c.442C>T