Allele Registry

Canonical Allele Identifier: PA2829467869

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000658870

RCV001140901

RCV001196059

ClinVar Variation:

501040

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Val1403Ile	CA1706946 NM_003494.4:c.4207G>A