Canonical Allele Identifier: PA2825761673
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 283243
ClinVar RCV Id: RCV000595427 RCV000725239 RCV003463747
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Cys1847Phe
CA10604436
NM_001130982.2:c.5540G>T