Allele Registry

Canonical Allele Identifier: PA645477735

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000725599

RCV001495704

ClinVar Variation:

285159

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Gly1492Ser	CA1707026 NM_001130987.2:c.4474G>A