Allele Registry

Canonical Allele Identifier: PA2825749457

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000174707

RCV000674572

RCV003468855

ClinVar Variation:

194354

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Leu448Pro	CA240279 NM_001130977.2:c.1343T>C