Canonical Allele Identifier: PA1139683763
Gene: DYSF HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124459.1:p.Gly83Arg
CA1705295
NM_001130987.2:c.247G>A
CA347204115
NM_001130987.2:c.247G>C