Allele Registry

Canonical Allele Identifier: PA2825755989

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000284809

RCV000376994

RCV000553818

RCV000732976

RCV001276721

ClinVar Variation:

336945

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Thr239Ala	CA1705427 NM_001130980.2:c.715A>G