ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828916993
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_001369641.1:p.Arg406Leu
CA350695018
NM_001382712.1:c.1217G>T