ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827683227
Gene: D2HGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1858
ClinVar RCV Id:
RCV000001932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339753.1:p.Asp188Tyr
CA115239
NM_001352824.2:c.562G>T