ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826742020
Gene: D2HGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434892
ClinVar RCV Id:
RCV000501644
RCV001255067
RCV001426967
RCV003915370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274178.1:p.Glu329Lys
CA2222220
NM_001287249.2:c.985G>A