Allele Registry

Canonical Allele Identifier: PA111519

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000416527

ClinVar Variation:

375437

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191326.1:p.Pro110Leu	CA16044258 NM_001204397.2:c.329C>T