Allele Registry

Canonical Allele Identifier: PA2827689924

Gene: SGSH HGNC NCBI

ClinVar Allele:

98521

ClinVar RCV:

RCV000078358

RCV000671585

ClinVar Variation:

92613

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339850.1:p.Gly33Arg	CA220487 NM_001352921.3:c.97G>A CA401364753 NM_001352921.3:c.97G>C