Canonical Allele Identifier: PA2825752452
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 336965
ClinVar RCV Id: RCV000294142 RCV000347373 RCV000727170 RCV001140788 RCV001276443
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Val1130Ile
CA1706568
NM_001130978.2:c.3388G>A