Canonical Allele Identifier: PA2825766380
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6668
ClinVar RCV Id: RCV000007052 RCV000007051 RCV000080320 RCV000815134 RCV001813961
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Arg2050Cys
CA222203
NM_001130984.2:c.6148C>T