Canonical Allele Identifier: PA916035625
Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 5108
ClinVar RCV Id: RCV000005415 RCV000078354 RCV000626628 RCV001030813
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339851.1:p.Arg74Cys
CA117258
NM_001352922.2:c.220C>T