Allele Registry

Canonical Allele Identifier: PA145863

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000078352

RCV000588276

RCV000625403

ClinVar Variation:

92610

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Arg456His	CA145862 NM_000199.5:c.1367G>A