Allele Registry

Canonical Allele Identifier: PA2825758491

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000313593

RCV001240422

RCV004021322

ClinVar Variation:

291123

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124453.1:p.Asn442Lys	CA1705704 NM_001130981.2:c.1326C>A CA347214779 NM_001130981.2:c.1326C>G