Canonical Allele Identifier: PA2825692726
Gene: DYSF HGNC NCBI
ClinVar RCV:
RCV000538326
ClinVar Variation:
471280
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Trp53Arg
CA347216250
NM_001130455.2:c.157T>A
CA347216252
NM_001130455.2:c.157T>C