Allele Registry

Canonical Allele Identifier: PA2829467230

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000310622

RCV000803161

RCV001833347

RCV003463758

ClinVar Variation:

285200

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Pro1024Leu	CA1706435 NM_003494.4:c.3071C>T