Allele Registry

Canonical Allele Identifier: PA2825750776

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000310014

RCV000362344

RCV000388999

RCV000493108

RCV000986770

RCV001079670

RCV001526431

ClinVar Variation:

288630

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Ala1683Ser	CA1707253 NM_001130977.2:c.5047G>T