This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
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