Allele Registry

Canonical Allele Identifier: PA2825753208

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000595427

RCV000725239

RCV003463747

ClinVar Variation:

283243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124450.1:p.Cys1836Phe	CA10604436 NM_001130978.2:c.5507G>T