ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828916460
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001225519
ClinVar Variation:
953258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369640.1:p.Arg343Leu
CA350693836
NM_001382711.1:c.1028G>T