Canonical Allele Identifier: PA2825758630
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 336955
ClinVar RCV Id: RCV000309668 RCV000345690 RCV001066203 RCV003144229
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Ala594Val
CA1705924
NM_001130981.2:c.1781C>T