ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828916003
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2925199
ClinVar RCV Id:
RCV003780853
RCV004366525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369639.1:p.Asn343Ser
CA350694194
NM_001382710.1:c.1028A>G