Canonical Allele Identifier: PA2827690202
Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 5107
ClinVar RCV Id: RCV000005414 RCV000078356 RCV000348775 RCV000623663 RCV001030817 RCV001837434 RCV003415657
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339850.1:p.Arg245His
CA117257
NM_001352921.3:c.734G>A