Canonical Allele Identifier: PA916035666
Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 5107
ClinVar RCV Id: RCV000005414 RCV000078356 RCV000348775 RCV000623663 RCV001030817 RCV001837434 RCV003415657
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339851.1:p.Arg245His
CA117257
NM_001352922.2:c.734G>A