Allele Registry

Canonical Allele Identifier: PA915973965

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000398537

RCV002518140

ClinVar Variation:

290506

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Thr1173Met	CA1706576 NM_001130982.2:c.3518C>T