Allele Registry

Canonical Allele Identifier: PA2825755218

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000311686

RCV000406762

RCV000711563

RCV001085629

RCV002271403

RCV003925057

ClinVar Variation:

94329

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124451.1:p.Arg1612His	CA222172 NM_001130979.2:c.4835G>A