Allele Registry

Canonical Allele Identifier: PA658806994

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000647987

RCV001276860

RCV003144428

ClinVar Variation:

538624

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Arg1788His	CA1707346 NM_001130987.2:c.5363G>A