Canonical Allele Identifier: PA2829465731
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1971988
ClinVar RCV Id: RCV002745846

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Glu73Gln
CA347216519
NM_003494.4:c.217G>C
CA2580067890
NM_003494.4:c.216_217delinsCC