ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827683258
Gene: D2HGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158410
ClinVar RCV Id:
RCV000145791
RCV000444247
RCV000987080
RCV003917442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339753.1:p.Ala239Thr
CA171824
NM_001352824.2:c.715G>A