Allele Registry

Canonical Allele Identifier: PA2825747158

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000313593

RCV001240422

RCV004021322

ClinVar Variation:

291123

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Asn411Lys	CA1705704 NM_001130976.2:c.1233C>A CA347214779 NM_001130976.2:c.1233C>G