Canonical Allele Identifier: PA2829467218
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2182380
ClinVar RCV Id: RCV002591983
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Ile1018Met
CA1706428
NM_003494.4:c.3054C>G