Allele Registry

Canonical Allele Identifier: PA2825759270

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000398537

RCV002518140

ClinVar Variation:

290506

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124453.1:p.Thr1158Met	CA1706576 NM_001130981.2:c.3473C>T