Canonical Allele Identifier: PA2825764575
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284934
ClinVar RCV Id: RCV001828209 RCV002521928 RCV001241483 RCV000264809
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Gly379Glu
CA1705655
NM_001130984.2:c.1136G>A