Allele Registry

Canonical Allele Identifier: PA2825768219

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000554512

RCV001508442

RCV001834796

ClinVar Variation:

471314

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124457.1:p.Arg1695Cys	CA1707255 NM_001130985.2:c.5083C>T