Canonical Allele Identifier: PA2825760747
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 336950
ClinVar RCV Id: RCV000297254 RCV000392981 RCV000705827 RCV001828331
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Ala457Val
CA1705708
NM_001130982.2:c.1370C>T