Allele Registry

Canonical Allele Identifier: PA106049

Gene: SGSH HGNC NCBI

ClinVar Allele:

20152

ClinVar RCV:

RCV000005420

ClinVar Variation:

5113

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Arg150Gln	CA117262 NM_000199.5:c.449G>A