ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828915266
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2440746
ClinVar RCV Id:
RCV003146047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369637.1:p.Ile447Val
CA350698634
NM_001382708.1:c.1339A>G