Allele Registry

Canonical Allele Identifier: PA2580210190

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV002593361

RCV004526936

ClinVar Variation:

1910563

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339851.1:p.Ser66Leu	CA294900009 NM_001352922.2:c.197C>T