Canonical Allele Identifier: PA2825764638
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 281067
ClinVar RCV Id: RCV000379326 RCV001244501
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Gly427Arg
CA10603801
NM_001130984.2:c.1279G>A
CA347215045
NM_001130984.2:c.1279G>C