Canonical Allele Identifier: PA2825758993
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290702
ClinVar RCV Id: RCV000380360 RCV001246606 RCV001833413 RCV002480056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Pro951Leu
CA1706296
NM_001130981.2:c.2852C>T