Canonical Allele Identifier: PA2825766067
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 500090
ClinVar RCV Id: RCV000665182 RCV000711567 RCV002531059
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Arg1757Cys
CA1707345
NM_001130984.2:c.5269C>T