Allele Registry

Canonical Allele Identifier: PA645438083

Gene: SGSH HGNC NCBI

ClinVar RCV:

RCV000485142

RCV003155207

ClinVar Variation:

421394

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Asp477Asn	CA16620651 NM_000199.5:c.1429G>A