ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827683221
Gene: D2HGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158406
ClinVar RCV Id:
RCV000145787
RCV000370487
RCV000677011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339753.1:p.Ala174Val
CA171816
NM_001352824.2:c.521C>T