ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573239360
Gene: TOPORS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1478983
ClinVar RCV Id:
RCV001974439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005793.2:p.Ser64Tyr
CA373173242
NM_005802.5:c.191C>A