Allele Registry

Canonical Allele Identifier: PA916035672

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000255725

RCV000409289

RCV001266815

ClinVar Variation:

265258

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339851.1:p.Pro293Ser	CA8817759 NM_001352922.2:c.877C>T