Allele Registry

Canonical Allele Identifier: PA658806784

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000593115

RCV000647988

RCV002532373

ClinVar Variation:

497494

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Arg865Trp	CA1706231 NM_001130987.2:c.2593C>T