Allele Registry

Canonical Allele Identifier: PA106039

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000439024

RCV000984216

ClinVar Variation:

381685

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Ala44Thr	CA16607870 NM_000199.5:c.130G>A