Allele Registry

Canonical Allele Identifier: PA2825693060

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000595897

RCV000790709

RCV001237531

RCV001814050

RCV003317083

RCV003466990

ClinVar Variation:

94358

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Thr253Met	CA222210 NM_001130455.2:c.758C>T