Canonical Allele Identifier: PA2573071213
Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 1325064
ClinVar RCV Id: RCV001783741
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339851.1:p.Arg245Cys
CA401361136
NM_001352922.2:c.733C>T