Allele Registry

Canonical Allele Identifier: PA915973571

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000304844

RCV000726444

RCV000804560

RCV001279899

ClinVar Variation:

290178

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Thr734Met	CA1706069 NM_001130982.2:c.2201C>T