Canonical Allele Identifier: PA2825761429
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94331
ClinVar Variation Id: 2418333
ClinVar RCV Id: RCV003121082

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Lys1630Asn
CA222176
NM_001130982.2:c.4890G>T
CA1707167
NM_001130982.2:c.4890G>C