Allele Registry

Canonical Allele Identifier: PA2829467059

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000380360

RCV001246606

RCV001833413

RCV002480056

ClinVar Variation:

290702

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Pro934Leu	CA1706296 NM_003494.4:c.2801C>T