ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826209819
Gene: TOPORS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182551.1:p.Ser512Tyr
CA5020481
NM_001195622.2:c.1535C>A