Canonical Allele Identifier: PA2825751432
Gene: DYSF HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Gly199Arg
CA1705419
NM_001130978.2:c.595G>A
CA347207355
NM_001130978.2:c.595G>C