Allele Registry

Canonical Allele Identifier: PA2827689941

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000439024

RCV000984216

ClinVar Variation:

381685

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339850.1:p.Ala44Thr	CA16607870 NM_001352921.3:c.130G>A