Canonical Allele Identifier: PA2825696029
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94353
ClinVar RCV Id: RCV000308010 RCV000407709 RCV000543402 RCV000725370 RCV001276874 RCV001449586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Ile2048Val
CA222205
NM_001130455.2:c.6142A>G