Canonical Allele Identifier: PA2573164433
Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 1412033
ClinVar RCV Id: RCV001923043

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000190.1:p.Arg435His
CA8817618
NM_000199.5:c.1304G>A