Canonical Allele Identifier: PA2825768981
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 287822
ClinVar RCV Id: RCV000329171 RCV001833378 RCV001247468
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Ala316Thr
CA1705596
NM_001130986.2:c.946G>A