Canonical Allele Identifier: PA2825754974
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_001124451.1:p.Cys1392Arg
CA1706900
NM_001130979.2:c.4174T>C