Allele Registry

Canonical Allele Identifier: PA2825749766

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000685812

RCV003144484

ClinVar Variation:

566085

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Pro777Leu	CA49742304 NM_001130977.2:c.2330C>T