Allele Registry

Canonical Allele Identifier: PA2827689986

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000005415

RCV000078354

RCV000626628

RCV001030813

ClinVar Variation:

5108

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339850.1:p.Arg74Cys	CA117258 NM_001352921.3:c.220C>T