ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217089
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66421
ClinVar RCV Id:
RCV000056812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Leu274Pro
CA217087
NM_001927.4:c.821T>C