ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828916518
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001249249
ClinVar Variation:
972950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369640.1:p.Arg399Leu
CA350695018
NM_001382711.1:c.1196G>T