Canonical Allele Identifier: PA2825751502
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284800
ClinVar RCV Id: RCV000595594 RCV001254624 RCV001379021 RCV002502122 RCV003469232
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Arg253Trp
CA1705479
NM_001130978.2:c.757C>T