Canonical Allele Identifier: PA2825748317
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1494500
ClinVar RCV Id: RCV002015025

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Phe1467Leu
CA1707052
NM_001130976.2:c.4401C>A
CA347217876
NM_001130976.2:c.4399T>C
CA347217884
NM_001130976.2:c.4401C>G