Allele Registry

Canonical Allele Identifier: PA2825751589

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000336319

RCV000667055

RCV001058931

RCV001067684

RCV001784244

RCV001823131

RCV003465460

ClinVar Variation:

288183

551891

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124450.1:p.Ser340Arg	CA10605994 NM_001130978.2:c.1020C>G CA347212164 NM_001130978.2:c.1018A>C CA347212168 NM_001130978.2:c.1020C>A