Allele Registry

Canonical Allele Identifier: PA1139684566

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV001141005

RCV003145356

ClinVar Variation:

897608

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Glu1872Lys	CA1707448 NM_001130987.2:c.5614G>A