Allele Registry

Canonical Allele Identifier: PA2825750149

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000116927

RCV000532523

RCV001086595

RCV001826784

ClinVar Variation:

128947

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Arg1082His	CA152663 NM_001130977.2:c.3245G>A