Canonical Allele Identifier: PA2825750445
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1932275
ClinVar RCV Id: RCV002649399

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124449.1:p.Asn1359Lys
CA49779104
NM_001130977.2:c.4077C>A
CA347228694
NM_001130977.2:c.4077C>G