Allele Registry

Canonical Allele Identifier: PA645477786

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000310014

RCV000362344

RCV000388999

RCV000493108

RCV000986770

RCV001079670

RCV001526431

ClinVar Variation:

288630

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Ala1715Ser	CA1707253 NM_001130987.2:c.5143G>T