Allele Registry

Canonical Allele Identifier: PA111479

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008551

ClinVar Variation:

8083

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191326.1:p.Leu100Gln	CA119281 NM_001204397.2:c.299T>A