Allele Registry

Canonical Allele Identifier: PA2829468475

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000370944

RCV002518057

ClinVar Variation:

288830

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Cys1678Tyr	CA10606239 NM_003494.4:c.5033G>A