Allele Registry

Canonical Allele Identifier: PA2829466231

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000726094

RCV001139795

RCV001833380

RCV003155152

ClinVar Variation:

287943

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Arg387Trp	CA1705660 NM_003494.4:c.1159C>T