Canonical Allele Identifier: PA2829466546
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2189797
ClinVar RCV Id: RCV002611827

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Ser593Phe
CA1705967
NM_003494.4:c.1778C>T