ClinGen Allele Registry
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
XP_011533341.1:p.Gln4232Leu
CA6910111
XM_011535039.2:c.12695A>T