Allele Registry

Canonical Allele Identifier: PA2825751123

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000356385

RCV000487973

RCV000675073

RCV001085395

RCV001449928

RCV003448906

RCV004549599

ClinVar Variation:

287816

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Arg2007Gln	CA1707599 NM_001130977.2:c.6020G>A