Allele Registry

Canonical Allele Identifier: PA2825767513

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000591140

RCV001376861

RCV002271535

RCV003338676

RCV003465340

ClinVar Variation:

498954

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124457.1:p.Arg1058Trp	CA347217064 NM_001130985.2:c.3172C>T