Canonical Allele Identifier: PA2825754752
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 450303
ClinVar RCV Id: RCV000523566 RCV001142639 RCV001829492
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124451.1:p.Arg1182Cys
CA1706610
NM_001130979.2:c.3544C>T