Canonical Allele Identifier: PA2825763049
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2441152
ClinVar RCV Id: RCV003146981

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Gln1053Lys
CA347217130
NM_001130983.2:c.3157C>A