Canonical Allele Identifier: PA2825695038
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1494500
ClinVar RCV Id: RCV002015025
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Phe1482Leu
CA1707052
NM_001130455.2:c.4446C>A
CA347217876
NM_001130455.2:c.4444T>C
CA347217884
NM_001130455.2:c.4446C>G