Allele Registry

Canonical Allele Identifier: PA220488

Gene: SGSH HGNC NCBI

ClinVar Allele:

98521

ClinVar RCV:

RCV000078358

RCV000671585

ClinVar Variation:

92613

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Gly33Arg	CA220487 NM_000199.5:c.97G>A CA401364753 NM_000199.5:c.97G>C