Canonical Allele Identifier: PA2825695356
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 471314
ClinVar RCV Id: RCV000554512 RCV001508442 RCV001834796
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg1678Cys
CA1707255
NM_001130455.2:c.5032C>T