Allele Registry

Canonical Allele Identifier: PA2825749002

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000536797

RCV000711545

RCV001835762

ClinVar Variation:

289471

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Val42Met	CA1705230 NM_001130977.2:c.124G>A