Allele Registry

Canonical Allele Identifier: PA645477802

Gene: DYSF HGNC NCBI

ClinVar Allele:

266861

ClinVar RCV:

RCV000266653

RCV000725114

RCV000757894

RCV001141002

RCV001810440

RCV003463743

ClinVar Variation:

282624

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Arg1807Gln	CA1707357 NM_001130987.2:c.5420G>A