Allele Registry

Canonical Allele Identifier: PA106299

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000005421

RCV000413635

RCV000624626

ClinVar Variation:

5114

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Glu447Lys	CA117263 NM_000199.5:c.1339G>A