Allele Registry

Canonical Allele Identifier: PA2825762328

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000080227

RCV000513692

RCV000670929

RCV001083703

ClinVar Variation:

94264

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Val375Leu	CA147717 NM_001130983.2:c.1123G>C CA347213315 NM_001130983.2:c.1123G>T