Allele Registry

Canonical Allele Identifier: PA2825768036

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000287411

RCV000321328

RCV001138012

RCV001828334

RCV003144233

ClinVar Variation:

336973

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124457.1:p.Lys1515Asn	CA1707061 NM_001130985.2:c.4545G>T CA347218052 NM_001130985.2:c.4545G>C