Allele Registry

Canonical Allele Identifier: PA645438078

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000399603

RCV001800655

RCV002523033

ClinVar Variation:

325828

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Arg443Gln	CA8817609 NM_000199.5:c.1328G>A