Canonical Allele Identifier: PA2825760468
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94343
ClinVar RCV Id: RCV000080309 RCV000373692 RCV000316737 RCV000546064 RCV001273966 RCV001795107
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Leu221Val
CA147767
NM_001130982.2:c.661C>G