Canonical Allele Identifier: PA2829467265
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 282449
ClinVar RCV Id: RCV000351237 RCV000665378 RCV001297834 RCV003469226
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Arg1039Trp
CA1706450
NM_003494.4:c.3115C>T