Allele Registry

Canonical Allele Identifier: PA2825756044

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000595594

RCV001254624

RCV001379021

RCV002502122

RCV003469232

ClinVar Variation:

284800

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Arg284Trp	CA1705479 NM_001130980.2:c.850C>T