Canonical Allele Identifier: PA2825760010
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 18443
ClinVar RCV Id: RCV000007073 RCV000723469 RCV001215439 RCV002476993
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Arg1848Lys
CA253922
NM_001130981.2:c.5543G>A