ClinGen Allele Registry
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Canonical Allele Identifier:
PA243383
Gene: TOPORS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005793.2:p.Arg673Leu
CA243382
NM_005802.5:c.2018G>T
CA243384
NM_005802.5:c.2018_2019delinsTA