Canonical Allele Identifier: PA2580152874
Gene: DYSF HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Arg1283Gln
CA1706712
NM_001130982.2:c.3848G>A
CA645526716
NM_001130982.2:c.3848_3849delinsAA