ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573304698
Gene: D2HGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1448519
ClinVar RCV Id:
RCV002012174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689996.4:p.Pro451Ser
CA2222210
NM_152783.5:c.1351C>T