Allele Registry

Canonical Allele Identifier: PA2825753655

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000593695

RCV000818446

RCV001276719

ClinVar Variation:

501816

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124451.1:p.Glu188Lys	CA1705382 NM_001130979.2:c.562G>A