Allele Registry

Canonical Allele Identifier: PA2825747420

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000304844

RCV000726444

RCV000804560

RCV001279899

ClinVar Variation:

290178

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Thr688Met	CA1706069 NM_001130976.2:c.2063C>T