Canonical Allele Identifier: PA2829468823
Gene: DYSF HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Trp1818Cys
CA347222737
NM_003494.4:c.5454G>C
CA347222740
NM_003494.4:c.5454G>T