Allele Registry

Canonical Allele Identifier: PA244681

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000177777

RCV000656846

RCV001084687

RCV001336578

RCV002516753

RCV003937609

ClinVar Variation:

196895

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Arg1254Trp	CA244680 NM_003494.4:c.3760C>T