Allele Registry

Canonical Allele Identifier: PA2825763767

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000201092

RCV000553055

RCV000723532

RCV002509296

RCV003468915

ClinVar Variation:

217227

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Arg1715Trp	CA279083 NM_001130983.2:c.5143C>T