Allele Registry

Canonical Allele Identifier: PA2825769972

Gene: DYSF HGNC NCBI

ClinVar Allele:

274894

ClinVar RCV:

RCV000326858

RCV000517716

RCV000710129

RCV001085630

RCV003957518

ClinVar Variation:

290657

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124458.1:p.Arg1229His	CA1706705 NM_001130986.2:c.3686G>A