Allele Registry

Canonical Allele Identifier: PA2825750481

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000658870

RCV001140901

RCV001196059

ClinVar Variation:

501040

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Val1389Ile	CA1706946 NM_001130977.2:c.4165G>A