Allele Registry

Canonical Allele Identifier: PA915974179

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000313317

RCV000370350

RCV000517870

RCV000727268

RCV001083961

RCV001274832

ClinVar Variation:

336971

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Pro1432Ala	CA1706942 NM_001130982.2:c.4294C>G