Allele Registry

Canonical Allele Identifier: PA916035649

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000005425

ClinVar Variation:

5118

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339851.1:p.Arg206Pro	CA117265 NM_001352922.2:c.617G>C