Canonical Allele Identifier: PA2825765785
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1494500
ClinVar RCV Id: RCV002015025

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Phe1489Leu
CA1707052
NM_001130984.2:c.4467C>A
CA347217876
NM_001130984.2:c.4465T>C
CA347217884
NM_001130984.2:c.4467C>G