Allele Registry

Canonical Allele Identifier: PA2827690259

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000023412

RCV000078357

RCV000326423

RCV001003995

RCV001030818

RCV001837443

ClinVar Variation:

30459

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339850.1:p.Ser298Pro	CA129225 NM_001352921.3:c.892T>C