Allele Registry

Canonical Allele Identifier: PA2825766146

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000595427

RCV000725239

RCV003463747

ClinVar Variation:

283243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124456.1:p.Cys1823Phe	CA10604436 NM_001130984.2:c.5468G>T