Allele Registry

Canonical Allele Identifier: PA916035639

Gene: SGSH HGNC NCBI

ClinVar Allele:

20152

ClinVar RCV:

RCV000005420

ClinVar Variation:

5113

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339851.1:p.Arg150Gln	CA117262 NM_001352922.2:c.449G>A