Allele Registry

Canonical Allele Identifier: PA2825766711

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000080333

RCV000696449

RCV001831823

RCV003330426

ClinVar Variation:

94365

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124457.1:p.Val318Glu	CA222220 NM_001130985.2:c.953T>A