Canonical Allele Identifier: PA2825759475
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94315
ClinVar RCV Id: RCV000080281 RCV000530026 RCV001271531 RCV001795103
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Arg1348Leu
CA147753
NM_001130981.2:c.4043G>T