Canonical Allele Identifier: PA2825761530
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 217227
ClinVar RCV Id: RCV000201092 RCV000553055 RCV000723532 RCV002509296 RCV003468915
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Arg1725Trp
CA279083
NM_001130982.2:c.5173C>T