Canonical Allele Identifier: PA2825769271
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 195490
ClinVar RCV Id: RCV000176067 RCV000675177 RCV001852168 RCV003235095 RCV003468857
ClinVar Variation Id: 217224
ClinVar RCV Id: RCV000201138 RCV000726170
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Gly605Arg
CA241938
NM_001130986.2:c.1813G>A
CA277611
NM_001130986.2:c.1813G>C