Allele Registry

Canonical Allele Identifier: PA645477654

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000310622

RCV000803161

RCV001833347

RCV003463758

ClinVar Variation:

285200

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Pro1042Leu	CA1706435 NM_001130987.2:c.3125C>T