Canonical Allele Identifier: PA2825749014
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 471280
ClinVar RCV Id: RCV000538326

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124449.1:p.Trp52Arg
CA347216250
NM_001130977.2:c.154T>A
CA347216252
NM_001130977.2:c.154T>C