Allele Registry

Canonical Allele Identifier: PA111071

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000671892

RCV001247195

RCV001531487

ClinVar Variation:

555968

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Leu1341Pro	CA1706888 NM_003494.4:c.4022T>C