Allele Registry

Canonical Allele Identifier: PA119282

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008551

ClinVar Variation:

8083

HGVS (amino-acid)	Matching Registered Transcripts
NP_700476.1:p.Leu54Gln	CA119281 NM_153427.3:c.161T>A