Allele Registry

Canonical Allele Identifier: PA2825080680

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV002471862

ClinVar Variation:

1805444

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Arg206His	CA8817933 NM_000199.5:c.617G>A