Canonical Allele Identifier: PA2825750475
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 336971
ClinVar RCV Id: RCV000313317 RCV000370350 RCV000517870 RCV000727268 RCV001274832 RCV001083961
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124449.1:p.Pro1386Ala
CA1706942
NM_001130977.2:c.4156C>G