Allele Registry

Canonical Allele Identifier: PA915973557

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000288710

RCV000311911

RCV000383412

RCV001139894

ClinVar Variation:

290745

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Gly712Val	CA1706038 NM_001130982.2:c.2135G>T