Allele Registry

Canonical Allele Identifier: PA2825763044

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000518215

RCV001239622

RCV001834664

RCV003144306

ClinVar Variation:

447285

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Arg1047Cys	CA1706459 NM_001130983.2:c.3139C>T