Canonical Allele Identifier: PA915974135
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 500922
ClinVar RCV Id: RCV000591033 RCV002491213 RCV003574784
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Cys1393Arg
CA1706900
NM_001130982.2:c.4177T>C