Allele Registry

Canonical Allele Identifier: PA2825755481

Gene: DYSF HGNC NCBI

ClinVar Allele:

267480

ClinVar RCV:

RCV000595427

RCV000725239

RCV003463747

ClinVar Variation:

283243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124451.1:p.Cys1846Phe	CA10604436 NM_001130979.2:c.5537G>T