Allele Registry

Canonical Allele Identifier: PA2829466590

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV002862900

RCV003146646

ClinVar Variation:

2023880

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Asp625Asn	CA1705980 NM_003494.4:c.1873G>A