Allele Registry

Canonical Allele Identifier: PA645477592

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000306031

RCV000403176

RCV000665544

RCV000727415

RCV001080579

ClinVar Variation:

336956

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Arg600Leu	CA1705931 NM_001130987.2:c.1799G>T