Allele Registry

Canonical Allele Identifier: PA2825763666

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000080297

RCV000548178

RCV001271548

RCV002222381

RCV003121082

RCV003466986

RCV004549503

ClinVar Variation:

94331

2418333

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Lys1620Asn	CA222176 NM_001130983.2:c.4860G>T CA1707167 NM_001130983.2:c.4860G>C