ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827683262
Gene: D2HGDH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1925529
ClinVar RCV:
RCV002664290
ClinVar Variation:
2203300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339753.1:p.Gly249Val
CA351412860
NM_001352824.2:c.746G>T