Allele Registry

Canonical Allele Identifier: PA2825758074

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000596018

RCV000814681

RCV001829688

RCV002532670

ClinVar Variation:

502553

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124453.1:p.Asn43Lys	CA1705231 NM_001130981.2:c.129C>A CA347216072 NM_001130981.2:c.129C>G