Allele Registry

Canonical Allele Identifier: PA2825760434

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000301411

RCV001082288

RCV001833344

RCV003091891

ClinVar Variation:

285148

2166693

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Gly187Arg	CA1705380 NM_001130982.2:c.559G>A CA49758528 NM_001130982.2:c.559G>C