Allele Registry

Canonical Allele Identifier: PA658674731

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000532679

RCV001834797

RCV004024174

ClinVar Variation:

471315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Arg1716His	CA1707257 NM_001130987.2:c.5147G>A