Allele Registry

Canonical Allele Identifier: PA110765

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000356385

RCV000487973

RCV000675073

RCV001085395

RCV001449928

RCV003448906

RCV004549599

ClinVar Variation:

287816

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Arg2000Gln	CA1707599 NM_003494.4:c.5999G>A