ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828917199
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2007349
ClinVar RCV Id:
RCV002842252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369642.1:p.Arg127Cys
CA65981208
NM_001382713.1:c.379C>T