Allele Registry

Canonical Allele Identifier: PA2825770309

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000559661

RCV000732545

ClinVar Variation:

471310

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124458.1:p.Ala1546Thr	CA1707145 NM_001130986.2:c.4636G>A