Allele Registry

Canonical Allele Identifier: PA645477010

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000080300

RCV000531528

RCV001273964

RCV001449921

RCV001699034

ClinVar Variation:

94334

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Ala202Glu	CA147766 NM_001130987.2:c.605C>A