Allele Registry

Canonical Allele Identifier: PA645438052

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000334808

RCV003324744

ClinVar Variation:

325841

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Gln213Lys	CA8817928 NM_000199.5:c.637C>A