Allele Registry

Canonical Allele Identifier: PA2827690052

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000612947

RCV001539080

RCV001814197

RCV002863612

ClinVar Variation:

518269

2028783

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339850.1:p.Gly122Arg	CA8818041 NM_001352921.3:c.364G>A CA401363324 NM_001352921.3:c.364G>C