Allele Registry

Canonical Allele Identifier: PA2825080432

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV002593361

RCV004526936

ClinVar Variation:

1910563

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Ser66Leu	CA294900009 NM_000199.5:c.197C>T