Canonical Allele Identifier: PA2825759654
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1494500
ClinVar RCV Id: RCV002015025

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Phe1519Leu
CA1707052
NM_001130981.2:c.4557C>A
CA347217876
NM_001130981.2:c.4555T>C
CA347217884
NM_001130981.2:c.4557C>G