Allele Registry

Canonical Allele Identifier: PA111492

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000023116

ClinVar Variation:

30197

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191326.1:p.Lys134Glu	CA129016 NM_001204397.2:c.400A>G