Allele Registry

Canonical Allele Identifier: PA645438073

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000478188

RCV001123038

ClinVar Variation:

420956

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Asp399Asn	CA16620652 NM_000199.5:c.1195G>A