Allele Registry

Canonical Allele Identifier: PA916035633

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000005417

ClinVar Variation:

5110

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339851.1:p.Pro128Leu	CA117260 NM_001352922.2:c.383C>T