Allele Registry

Canonical Allele Identifier: PA2825761693

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV001141005

RCV003145356

ClinVar Variation:

897608

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Glu1865Lys	CA1707448 NM_001130982.2:c.5593G>A