Canonical Allele Identifier: PA2825764340
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 167016
ClinVar RCV Id: RCV000153173 RCV001140455
JSON-LD

Amino-acid Alleles

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