Allele Registry

Canonical Allele Identifier: PA2825692914

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000342489

RCV000793369

RCV001273965

ClinVar Variation:

286920

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Gly179Arg	CA1705397 NM_001130455.2:c.535G>A CA347207062 NM_001130455.2:c.535G>C