Canonical Allele Identifier: PA2825765888
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290095
ClinVar RCV Id: RCV000287690 RCV001062505 RCV001271546 RCV002518115 RCV004549620
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Arg1594Gln
CA1707161
NM_001130984.2:c.4781G>A