Canonical Allele Identifier: PA2825758193
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 285148
ClinVar RCV Id: RCV000301411 RCV001082288 RCV001833344
ClinVar Variation Id: 2166693
ClinVar RCV Id: RCV003091891
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Gly186Arg
CA1705380
NM_001130981.2:c.556G>A
CA49758528
NM_001130981.2:c.556G>C