Allele Registry

Canonical Allele Identifier: PA247175

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000656845

RCV000706741

RCV001276722

RCV001336579

ClinVar Variation:

198494

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Asn236Thr	CA247174 NM_003494.4:c.707A>C