ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645450996
Gene: DHDDS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
297075
ClinVar RCV Id:
RCV000373487
RCV000838160
RCV001277164
RCV001537673
RCV003888701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079163.2:p.Val253Met
CA705442
NM_024887.4:c.757G>A