Allele Registry

Canonical Allele Identifier: PA2825755808

Gene: DYSF HGNC NCBI

ClinVar Allele:

493977

ClinVar RCV:

RCV000596018

RCV000814681

RCV001829688

RCV002532670

ClinVar Variation:

502553

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Asn43Lys	CA1705231 NM_001130980.2:c.129C>A CA347216072 NM_001130980.2:c.129C>G