Canonical Allele Identifier: PA2829468587
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290354
ClinVar RCV Id: RCV000328882 RCV000557258 RCV001833407
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Thr1718Pro
CA1707307
NM_003494.4:c.5152A>C