Allele Registry

Canonical Allele Identifier: PA916035623

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000005418

RCV000255782

RCV000586103

RCV001030815

RCV002512807

RCV003934800

ClinVar Variation:

5111

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339851.1:p.Ser66Trp	CA117261 NM_001352922.2:c.197C>G