Allele Registry

Canonical Allele Identifier: PA2825693855

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000007055

RCV000007056

RCV000790785

RCV000807968

ClinVar Variation:

6671

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Pro792Arg	CA222139 NM_001130455.2:c.2375C>G