Allele Registry

Canonical Allele Identifier: PA2825764935

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000176395

RCV000765697

RCV001085145

RCV001271790

ClinVar Variation:

195749

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124456.1:p.Gly748Ser	CA242326 NM_001130984.2:c.2242G>A