ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645497858
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411147
ClinVar RCV Id:
RCV000470564
RCV000484887
RCV002489075
RCV003168845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Gln131Lys
CA2125062
NM_001927.4:c.391C>A