Allele Registry

Canonical Allele Identifier: PA2825761429

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000080297

RCV000548178

RCV001271548

RCV002222381

RCV003121082

RCV003466986

RCV004549503

ClinVar Variation:

94331

2418333

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Lys1630Asn	CA222176 NM_001130982.2:c.4890G>T CA1707167 NM_001130982.2:c.4890G>C