ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916035673
Gene: SGSH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001339851.1:p.Ser298Pro
NM_001352922.2:c.892T>C