Allele Registry

Canonical Allele Identifier: PA106411

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000005417

ClinVar Variation:

5110

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Pro128Leu	CA117260 NM_000199.5:c.383C>T