Allele Registry

Canonical Allele Identifier: PA2829468590

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000689268

RCV000711566

RCV001274852

RCV003278732

ClinVar Variation:

282885

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Arg1720His	CA1707309 NM_003494.4:c.5159G>A