Canonical Allele Identifier: PA2825769216
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94278
ClinVar RCV Id: RCV000080241 RCV000984167 RCV001384924 RCV003460749 RCV004549502
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Arg542Trp
CA222133
NM_001130986.2:c.1624C>T