Allele Registry

Canonical Allele Identifier: PA111431

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008557

RCV001200029

ClinVar Variation:

8089

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191326.1:p.Arg130Trp	CA119289 NM_001204397.2:c.388C>T