Allele Registry

Canonical Allele Identifier: PA110742

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000007060

RCV000176936

RCV000763088

RCV000790688

RCV001229764

ClinVar Variation:

6675

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Arg1046His	CA222152 NM_003494.4:c.3137G>A