ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826328391
Gene: DHDDS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488193
ClinVar RCV Id:
RCV000578123
RCV001853833
RCV001172209
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230493.1:p.Arg177Gln
CA339144815
NM_001243564.2:c.530G>A