Canonical Allele Identifier: PA2825757127
Gene: DYSF HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124452.1:p.Arg1268Gln
CA1706712
NM_001130980.2:c.3803G>A
CA645526716
NM_001130980.2:c.3803_3804delinsAA