Allele Registry

Canonical Allele Identifier: PA2829466798

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000550765

RCV001274454

RCV001558981

ClinVar Variation:

471285

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Arg780His	CA1706135 NM_003494.4:c.2339G>A