Canonical Allele Identifier: PA2825751336
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 597683
ClinVar RCV Id: RCV000733873 RCV001038268 RCV001273962 RCV002536504
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Ser116Leu
CA1705338
NM_001130978.2:c.347C>T