Canonical Allele Identifier: PA2825694478
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290506
ClinVar RCV Id: RCV000398537 RCV002518140
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Thr1142Met
CA1706576
NM_001130455.2:c.3425C>T