Allele Registry

Canonical Allele Identifier: PA2825748332

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000287411

RCV000321328

RCV001138012

RCV001828334

RCV003144233

ClinVar Variation:

336973

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Lys1483Asn	CA1707061 NM_001130976.2:c.4449G>T CA347218052 NM_001130976.2:c.4449G>C