Allele Registry

Canonical Allele Identifier: PA2825123357

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000179024

RCV001852224

RCV002293425

ClinVar Variation:

197883

HGVS (amino-acid)	Matching Registered Transcripts
NP_000316.2:p.Arg144Gln	CA246272 NM_000325.6:c.431G>A