Allele Registry

Canonical Allele Identifier: PA2829468878

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000265900

RCV001859602

RCV003401247

ClinVar Variation:

284471

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Val1840Met	CA10604806 NM_003494.4:c.5518G>A