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
ENSP00000387137.1:p.Gln424Ter
ENST00000409762.5:c.[1269del;1271A>T]
ENST00000409762.5:c.[1269del;1271A>T;1273...
ENST00000409762.5:c.1270C>T
