ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826271696
Gene: PITX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1071052
ClinVar RCV Id:
RCV001383407
RCV001780324
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191328.1:p.Arg43Trp
CA357985641
NM_001204399.1:c.127C>T