ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828916570
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
949378
ClinVar RCV Id:
RCV001220826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369640.1:p.Leu463Pro
CA350699256
NM_001382711.1:c.1388T>C