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) Matching Registered Transcripts
ENSP00000513536.1:p.Gln469His
CA347228177
ENST00000698057.1:c.1407G>C
CA347228178
ENST00000698057.1:c.1407G>T