Canonical Allele Identifier: PA2829466221
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_003485.1:p.Gly378Glu
CA1705655
NM_003494.4:c.1133G>A