Allele Registry

Canonical Allele Identifier: PA2825748444

Gene: DYSF HGNC NCBI

ClinVar Allele:

451795

ClinVar RCV:

RCV000558437

RCV000592365

RCV001271549

ClinVar Variation:

471311

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Ile1593Val	CA1707194 NM_001130976.2:c.4777A>G