Allele Registry

Canonical Allele Identifier: PA222221

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000080333

RCV000696449

RCV001831823

RCV003330426

ClinVar Variation:

94365

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Val286Glu	CA222220 NM_003494.4:c.857T>A