Allele Registry

Canonical Allele Identifier: PA2830327715

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008553

ClinVar Variation:

8085

HGVS (amino-acid)	Matching Registered Transcripts
NP_700475.1:p.Thr114Pro	CA119283 NM_153426.3:c.340A>C