Allele Registry

Canonical Allele Identifier: PA2825763854

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000266653

RCV000725114

RCV000757894

RCV001141002

RCV001810440

RCV003463743

ClinVar Variation:

282624

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Arg1790Gln	CA1707357 NM_001130983.2:c.5369G>A