Allele Registry

Canonical Allele Identifier: PA2827690131

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000413143

RCV000672002

ClinVar Variation:

372781

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339850.1:p.Gly191Arg	CA8817942 NM_001352921.3:c.571G>A CA401362048 NM_001352921.3:c.571G>C