Allele Registry

Canonical Allele Identifier: PA2825693844

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000385438

RCV000525552

RCV001535516

ClinVar Variation:

288008

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Ala784Val	CA1706139 NM_001130455.2:c.2351C>T