Canonical Allele Identifier: PA2825760495
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 336945
ClinVar RCV Id: RCV000284809 RCV000376994 RCV000553818 RCV000732976 RCV001276721
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Thr240Ala
CA1705427
NM_001130982.2:c.718A>G