Canonical Allele Identifier: PA2825748443
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 197504
ClinVar RCV Id: RCV000245703 RCV000711564 RCV001085998 RCV001274849 RCV001449590 RCV002466461 RCV003891739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Ile1593Thr
CA275275
NM_001130976.2:c.4778T>C