Allele Registry

Canonical Allele Identifier: PA2825749757

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000385438

RCV000525552

RCV001535516

ClinVar Variation:

288008

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Ala769Val	CA1706139 NM_001130977.2:c.2306C>T