Canonical Allele Identifier: PA2825756482
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 283228
ClinVar RCV Id: RCV000725234 RCV001087666 RCV001271785
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124452.1:p.Ala715Val
CA1706065
NM_001130980.2:c.2144C>T