Allele Registry

Canonical Allele Identifier: PA106115

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000005416

RCV000790770

RCV002512806

ClinVar Variation:

5109

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Arg433Gln	CA117259 NM_000199.5:c.1298G>A