Canonical Allele Identifier: PA2825748130
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 197004
ClinVar RCV Id: RCV000658869 RCV000691904 RCV001329091
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Gln1309Glu
CA244881
NM_001130976.2:c.3925C>G