Allele Registry

Canonical Allele Identifier: PA915973652

Gene: DYSF HGNC NCBI

ClinVar Allele:

451567

ClinVar RCV:

RCV000550765

RCV001274454

RCV001558981

ClinVar Variation:

471285

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Arg812His	CA1706135 NM_001130982.2:c.2435G>A