Allele Registry

Canonical Allele Identifier: PA2825756411

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV002862900

RCV003146646

ClinVar Variation:

2023880

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Asp642Asn	CA1705980 NM_001130980.2:c.1924G>A