Canonical Allele Identifier: PA2825762519
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_001124455.1:p.Arg556Trp
CA222133
NM_001130983.2:c.1666C>T