Allele Registry

Canonical Allele Identifier: PA2829467418

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000294142

RCV000347373

RCV000727170

RCV001140788

RCV001276443

ClinVar Variation:

336965

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Val1130Ile	CA1706568 NM_003494.4:c.3388G>A