Allele Registry

Canonical Allele Identifier: PA2825751457

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000593233

RCV001240944

RCV001834886

ClinVar Variation:

499205

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124450.1:p.Pro217Leu	CA1705435 NM_001130978.2:c.650C>T