ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828916891
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2940081
ClinVar RCV Id:
RCV003797439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369641.1:p.Ser290Cys
CA350691730
NM_001382712.1:c.869C>G