Canonical Allele Identifier: PA2825768844
Gene: DYSF HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Gly200Arg
CA1705419
NM_001130986.2:c.598G>A
CA347207355
NM_001130986.2:c.598G>C