Canonical Allele Identifier: PA2825765228
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 196175
ClinVar RCV Id: RCV000176934 RCV000724183 RCV001050002 RCV001804906 RCV003468860
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Tyr1001Cys
CA275155
NM_001130984.2:c.3002A>G