Allele Registry

Canonical Allele Identifier: PA106440

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000255725

RCV000409289

RCV001266815

ClinVar Variation:

265258

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Pro293Ser	CA8817759 NM_000199.5:c.877C>T