Allele Registry

Canonical Allele Identifier: PA2829466801

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000385438

RCV000525552

RCV001535516

ClinVar Variation:

288008

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Ala783Val	CA1706139 NM_003494.4:c.2348C>T