Canonical Allele Identifier: PA2825756728
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290702
ClinVar RCV Id: RCV000380360 RCV001246606 RCV001833413 RCV002480056
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124452.1:p.Pro951Leu
CA1706296
NM_001130980.2:c.2852C>T