Allele Registry

Canonical Allele Identifier: PA2825750937

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000007073

RCV000723469

RCV001215439

RCV002476993

ClinVar Variation:

18443

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Arg1817Lys	CA253922 NM_001130977.2:c.5450G>A