Canonical Allele Identifier: PA2826687690
Gene: GUSB HGNC NCBI
ClinVar RCV:
RCV000000954
ClinVar Variation:
906
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001271219.1:p.Lys204Asn
CA339853
NM_001284290.2:c.612G>C
CA367644496
NM_001284290.2:c.612G>T