Allele Registry

Canonical Allele Identifier: PA645477633

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000338669

RCV000393077

RCV000416052

RCV000531939

RCV001271795

ClinVar Variation:

284580

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Glu890Lys	CA1706245 NM_001130987.2:c.2668G>A