Allele Registry

Canonical Allele Identifier: PA916035644

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000626217

RCV002285381

ClinVar Variation:

523015

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339851.1:p.Arg182Cys	CA8817949 NM_001352922.2:c.544C>T