ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580200734
Gene: THPO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2084087
ClinVar RCV Id:
RCV002994528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001276932.1:p.His391Gln
CA2734878
NM_001290003.1:c.1173C>G
CA2734879
NM_001290003.1:c.1173C>A