Allele Registry

Canonical Allele Identifier: PA2825748786

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000262181

RCV000648008

RCV001276869

ClinVar Variation:

284822

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Asp1905Glu	CA1707524 NM_001130976.2:c.5715T>G CA347225417 NM_001130976.2:c.5715T>A