Allele Registry

Canonical Allele Identifier: PA2825693568

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000306031

RCV000403176

RCV000665544

RCV000727415

RCV001080579

ClinVar Variation:

336956

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Arg583Leu	CA1705931 NM_001130455.2:c.1748G>T