Canonical Allele Identifier: PA2825765522
Gene: DYSF HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Arg1238Gln
CA1706712
NM_001130984.2:c.3713G>A
CA645526716
NM_001130984.2:c.3713_3714delinsAA