ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: SACS
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000507057.1:p.[Pro10_Cys20del;Thr22_Phe39del]
CA16041658
ENST00000684497.1:c.29del