ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828916988
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2102249
ClinVar RCV Id:
RCV003037634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369641.1:p.Ala403Asp
CA350694984
NM_001382712.1:c.1208C>A