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2026-08-07T10:00:00-0500
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2026-08-14T18:00:00-0500
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ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106329
Gene: SGSH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000190.1:p.Gly251Ala
CA8817784
NM_000199.5:c.752G>C