Canonical Allele Identifier: PA2825770183
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 283624
ClinVar RCV Id: RCV000278721 RCV000792442 RCV001274838 RCV002518888 RCV003909953
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Ser1421Leu
CA1706972
NM_001130986.2:c.4262C>T