Allele Registry

Canonical Allele Identifier: PA2825764340

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000153173

RCV001140455

ClinVar Variation:

167016

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124456.1:p.Ala171Val	CA179983 NM_001130984.2:c.512C>T