Canonical Allele Identifier: PA2825764289
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94311
ClinVar RCV Id: RCV000080277 RCV000210633 RCV000499917 RCV000527027 RCV000675166 RCV001449935 RCV001573049 RCV003891555 RCV003993796
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Gly129Glu
CA147747
NM_001130984.2:c.386G>A