Canonical Allele Identifier: PA2825766353
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 285133
ClinVar RCV Id: RCV000304230 RCV000811495
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Arg2027Lys
CA10605008
NM_001130984.2:c.6080G>A