Canonical Allele Identifier: PA106039
Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 381685
ClinVar RCV Id: RCV000439024 RCV000984216
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000190.1:p.Ala44Thr
CA16607870
NM_000199.5:c.130G>A