Canonical Allele Identifier: PA2829466496
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 289490
ClinVar RCV Id: RCV000389310 RCV000726337 RCV001271778 RCV001850449
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Arg553Cys
CA1705911
NM_003494.4:c.1657C>T