Canonical Allele Identifier: PA2825768799
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 501816
ClinVar RCV Id: RCV000593695 RCV000818446 RCV001276719
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Glu158Lys
CA1705382
NM_001130986.2:c.472G>A