Allele Registry

Canonical Allele Identifier: PA2825753314

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000262181

RCV000648008

RCV001276869

ClinVar Variation:

284822

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124450.1:p.Asp1940Glu	CA1707524 NM_001130978.2:c.5820T>G CA347225417 NM_001130978.2:c.5820T>A