Canonical Allele Identifier: PA2825768401
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1980346
ClinVar RCV Id: RCV002780231
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124457.1:p.Gly1850Arg
CA347222985
NM_001130985.2:c.5548G>A
CA347222987
NM_001130985.2:c.5548G>C