Allele Registry

Canonical Allele Identifier: PA2829468865

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV001141005

RCV003145356

ClinVar Variation:

897608

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Glu1833Lys	CA1707448 NM_003494.4:c.5497G>A