Allele Registry

Canonical Allele Identifier: PA2825752069

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000523223

RCV001829489

RCV002527605

RCV004023559

ClinVar Variation:

450192

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124450.1:p.Arg819Trp	CA1706191 NM_001130978.2:c.2455C>T