ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826209912
Gene: TOPORS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196423
ClinVar RCV Id:
RCV000177244
RCV001168731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182551.1:p.Thr717Ala
CA243378
NM_001195622.2:c.2149A>G