Allele Registry

Canonical Allele Identifier: PA106282

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000414288

RCV000489539

ClinVar Variation:

325835

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Glu355Lys	CA8817682 NM_000199.5:c.1063G>A