Allele Registry

Canonical Allele Identifier: PA2825763778

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000595675

RCV001243854

RCV001829645

ClinVar Variation:

498372

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Gln1722Leu	CA1707293 NM_001130983.2:c.5165A>T