Allele Registry

Canonical Allele Identifier: PA2825748115

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000291125

RCV000526675

RCV001085337

RCV003967764

ClinVar Variation:

287175

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Thr1291Lys	CA1706829 NM_001130976.2:c.3872C>A