ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645485511
Gene: TOPORS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432596
ClinVar RCV Id:
RCV000498566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005793.2:p.Pro6Leu
CA5020748
NM_005802.5:c.17C>T