ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827689992
Gene: SGSH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339850.1:p.Thr79Pro
CA8818138
NM_001352921.3:c.235A>C