Allele Registry

Canonical Allele Identifier: PA2825766567

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000593695

RCV000818446

RCV001276719

ClinVar Variation:

501816

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124457.1:p.Glu189Lys	CA1705382 NM_001130985.2:c.565G>A