Allele Registry

Canonical Allele Identifier: PA2825693104

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000080334

RCV003236666

RCV003460754

ClinVar Variation:

94366

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Ser290Pro	CA222222 NM_001130455.2:c.868T>C