Allele Registry

Canonical Allele Identifier: PA2825748798

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000648022

RCV001276870

RCV001311193

ClinVar Variation:

538646

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Arg1917Cys	CA1707548 NM_001130976.2:c.5749C>T