Allele Registry

Canonical Allele Identifier: PA111528

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008553

ClinVar Variation:

8085

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191326.1:p.Thr114Pro	CA119283 NM_001204397.2:c.340A>C