Canonical Allele Identifier: PA2825756188
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 287943
ClinVar RCV Id: RCV000726094 RCV001139795 RCV003155152 RCV001833380
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124452.1:p.Arg418Trp
CA1705660
NM_001130980.2:c.1252C>T