Allele Registry

Canonical Allele Identifier: PA2825746977

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000488274

RCV001142308

RCV001828197

RCV002494838

RCV002518899

ClinVar Variation:

283965

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Arg253Gln	CA1705480 NM_001130976.2:c.758G>A