ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106049
Gene: SGSH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000190.1:p.Arg150Gln
NM_000199.5:c.449G>A