ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826741992
Gene: D2HGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158409
ClinVar RCV Id:
RCV000145790
RCV000513008
RCV003945167
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274178.1:p.Ala286Thr
CA171822
NM_001287249.2:c.856G>A