Canonical Allele Identifier: PA2825693949
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 497494
ClinVar RCV Id: RCV000593115 RCV000647988 RCV002532373
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg848Trp
CA1706231
NM_001130455.2:c.2542C>T