Allele Registry

Canonical Allele Identifier: PA3057569515

Gene: SGSH HGNC NCBI

ClinVar Allele:

3712414

ClinVar RCV:

RCV005022800

ClinVar Variation:

3583111

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339851.1:p.Arg150Pro	CA401362757 NM_001352922.2:c.449G>C