Allele Registry

Canonical Allele Identifier: PA2825757289

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000658870

RCV001140901

RCV001196059

ClinVar Variation:

501040

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Val1420Ile	CA1706946 NM_001130980.2:c.4258G>A