Canonical Allele Identifier: PA2825764339
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94334
ClinVar RCV Id: RCV000080300 RCV000531528 RCV001273964 RCV001699034 RCV001449921
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Ala171Glu
CA147766
NM_001130984.2:c.512C>A