Allele Registry

Canonical Allele Identifier: PA2825693100

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000080333

RCV000696449

RCV001831823

RCV003330426

ClinVar Variation:

94365

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Val287Glu	CA222220 NM_001130455.2:c.860T>A