Allele Registry

Canonical Allele Identifier: PA2827690062

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000005417

ClinVar Variation:

5110

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339850.1:p.Pro128Leu	CA117260 NM_001352921.3:c.383C>T