Allele Registry

Canonical Allele Identifier: PA2827689959

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000494203

RCV000672621

RCV003235251

ClinVar Variation:

429525

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339850.1:p.Ser57Arg	CA401364359 NM_001352921.3:c.171C>G CA401364361 NM_001352921.3:c.171C>A CA401364372 NM_001352921.3:c.169A>C