Canonical Allele Identifier: PA2825762432
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94270
ClinVar RCV Id: RCV000080233 RCV000550203 RCV000710125 RCV001835673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Glu458Lys
CA147721
NM_001130983.2:c.1372G>A