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: DYSF
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000398305.2:p.Gln393Ter
ENST00000429174.6:c.[1176del;1178A>T]
ENST00000429174.6:c.[1176del;1178A>T;1180...
ENST00000429174.6:c.1177C>T