Canonical Allele Identifier: PA2825752982
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290187
ClinVar RCV Id: RCV000348647 RCV002494891 RCV001833403 RCV001240482
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Thr1643Met
CA1707202
NM_001130978.2:c.4928C>T