Allele Registry

Canonical Allele Identifier: PA2825749144

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000342489

RCV000793369

RCV001273965

ClinVar Variation:

286920

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Gly178Arg	CA1705397 NM_001130977.2:c.532G>A CA347207062 NM_001130977.2:c.532G>C