ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827690123
Gene: SGSH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339850.1:p.Arg182His
CA8817948
NM_001352921.3:c.545G>A