Canonical Allele Identifier: PA253914
Gene: DYSF HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001124450.1:p.Gly519Arg
NM_001130978.2:c.1555G>A

NM_001130978.2:c.1555G>C