Canonical Allele Identifier: PA2825694843
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2441141
ClinVar RCV Id: RCV003146970

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Val1390Met
CA347228972
NM_001130455.2:c.4168G>A