Allele Registry

Canonical Allele Identifier: PA2825757197

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000658869

RCV000691904

RCV001329091

ClinVar Variation:

197004

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Gln1340Glu	CA244881 NM_001130980.2:c.4018C>G