Allele Registry

Canonical Allele Identifier: PA2827689992

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000413476

RCV001035206

ClinVar Variation:

372782

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339850.1:p.Thr79Pro	CA8818138 NM_001352921.3:c.235A>C