Allele Registry

Canonical Allele Identifier: PA2825758825

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000550765

RCV001274454

RCV001558981

ClinVar Variation:

471285

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124453.1:p.Arg797His	CA1706135 NM_001130981.2:c.2390G>A