ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3083967583
Gene: SGSH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000190.1:p.Arg433Leu
CA401358722
NM_000199.5:c.1298G>T