Allele Registry

Canonical Allele Identifier: PA2829465867

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000415918

RCV000675087

RCV001844111

RCV002521923

ClinVar Variation:

284579

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Pro134Leu	CA1705344 NM_003494.4:c.401C>T