ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741864746
Gene: SGSH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339851.1:p.Pro180Leu
CA401362213
NM_001352922.2:c.539C>T