Allele Registry

Canonical Allele Identifier: PA2825755187

Gene: DYSF HGNC NCBI

ClinVar Allele:

451760

ClinVar RCV:

RCV000559661

RCV000732545

ClinVar Variation:

471310

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124451.1:p.Ala1590Thr	CA1707145 NM_001130979.2:c.4768G>A