Canonical Allele Identifier: PA2825764217
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 471280
ClinVar RCV Id: RCV000538326
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Trp53Arg
CA347216250
NM_001130984.2:c.157T>A
CA347216252
NM_001130984.2:c.157T>C