Allele Registry

Canonical Allele Identifier: PA246548

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000179273

RCV001376860

ClinVar Variation:

198058

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Arg245Leu	CA246547 NM_000199.5:c.734G>T