Allele Registry

Canonical Allele Identifier: PA2830327757

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008557

RCV001200029

ClinVar Variation:

8089

HGVS (amino-acid)	Matching Registered Transcripts
NP_700475.1:p.Arg130Trp	CA119289 NM_153426.3:c.388C>T