Allele Registry

Canonical Allele Identifier: PA2825767478

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000313635

RCV000666376

RCV000701610

RCV002494839

ClinVar Variation:

284003

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124457.1:p.Pro1038Leu	CA1706432 NM_001130985.2:c.3113C>T