Allele Registry

Canonical Allele Identifier: PA2825763045

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000007060

RCV000176936

RCV000763088

RCV000790688

RCV001229764

ClinVar Variation:

6675

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Arg1047His	CA222152 NM_001130983.2:c.3140G>A