Allele Registry

Canonical Allele Identifier: PA2827690133

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000626218

ClinVar Variation:

523016

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339850.1:p.Phe193Ser	CA401362008 NM_001352921.3:c.578T>C