Canonical Allele Identifier: PA2826271554
Gene: PITX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1693134
ClinVar RCV Id: RCV002293569
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001191326.1:p.Phe133Leu
CA357984522
NM_001204397.2:c.399C>G
CA357984523
NM_001204397.2:c.399C>A
CA357984529
NM_001204397.2:c.397T>C