Allele Registry

Canonical Allele Identifier: PA106248

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000309724

RCV000666337

RCV001030814

ClinVar Variation:

279891

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Gln380Arg	CA8817662 NM_000199.5:c.1139A>G