Allele Registry

Canonical Allele Identifier: PA2825757243

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000331066

RCV000820404

RCV001828229

ClinVar Variation:

286443

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Thr1382Met	CA1706904 NM_001130980.2:c.4145C>T