Allele Registry

Canonical Allele Identifier: PA111411

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008562

RCV001200039

RCV002293409

RCV003242963

ClinVar Variation:

8094

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191326.1:p.Arg108His	CA119299 NM_001204397.2:c.323G>A