Canonical Allele Identifier: PA2825769983
Gene: DYSF HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Arg1238Gln
CA1706712
NM_001130986.2:c.3713G>A
CA645526716
NM_001130986.2:c.3713_3714delinsAA