Allele Registry

Canonical Allele Identifier: PA645438075

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000224037

RCV001085633

RCV003947736

ClinVar Variation:

235638

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Arg428His	CA8817627 NM_000199.5:c.1283G>A