Canonical Allele Identifier: PA2825759750
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94329
ClinVar RCV Id: RCV000311686 RCV000406762 RCV000711563 RCV001085629 RCV002271403 RCV003925057
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Arg1619His
CA222172
NM_001130981.2:c.4856G>A