Allele Registry

Canonical Allele Identifier: PA658802809

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000626218

ClinVar Variation:

523016

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Phe193Ser	CA401362008 NM_000199.5:c.578T>C