ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA243379
Gene: TOPORS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000177244
RCV001168731
ClinVar Variation:
196423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005793.2:p.Thr782Ala
CA243378
NM_005802.5:c.2344A>G