ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826271616
Gene: PITX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1693131
ClinVar RCV Id:
RCV002293566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191327.1:p.Phe92Ser
CA357985618
NM_001204398.1:c.275T>C