ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111528
Gene: PITX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191326.1:p.Thr114Pro
CA119283
NM_001204397.2:c.340A>C