ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580108535
Gene: SGSH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000190.1:p.Arg465Gln
CA401358533
NM_000199.5:c.1394G>A