ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499251392
Gene: SGSH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339851.1:p.Gln239Arg
CA401361266
NM_001352922.2:c.716A>G