Allele Registry

Canonical Allele Identifier: PA2825757502

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000080297

RCV000548178

RCV001271548

RCV002222381

RCV003121082

RCV003466986

RCV004549503

ClinVar Variation:

94331

2418333

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Lys1615Asn	CA222176 NM_001130980.2:c.4845G>T CA1707167 NM_001130980.2:c.4845G>C