Canonical Allele Identifier: PA2829467655
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2199498
ClinVar RCV Id: RCV002659668
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Glu1294Lys
CA1706801
NM_003494.4:c.3880G>A