Canonical Allele Identifier: PA2825760319
Gene: DYSF HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Trp47Arg
CA347216093
NM_001130982.2:c.139T>A
CA347216094
NM_001130982.2:c.139T>C