Allele Registry

Canonical Allele Identifier: PA242687

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000176653

RCV000553449

RCV001267331

ClinVar Variation:

195961

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Val891Ile	CA242686 NM_003494.4:c.2671G>A