Allele Registry

Canonical Allele Identifier: PA106065

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000626217

RCV002285381

ClinVar Variation:

523015

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Arg182Cys	CA8817949 NM_000199.5:c.544C>T