Allele Registry

Canonical Allele Identifier: PA242327

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000176395

RCV000765697

RCV001085145

RCV001271790

ClinVar Variation:

195749

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Gly761Ser	CA242326 NM_003494.4:c.2281G>A