ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828914962
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
955639
ClinVar RCV Id:
RCV001228319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369637.1:p.Ile123Val
CA2125057
NM_001382708.1:c.367A>G