Canonical Allele Identifier: PA2825080356
Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 659876
ClinVar RCV Id: RCV000816955

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000190.1:p.Ser37Arg
CA401364675
NM_000199.5:c.111T>G
CA401364679
NM_000199.5:c.111T>A
CA401364691
NM_000199.5:c.109A>C