Allele Registry

Canonical Allele Identifier: PA119290

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008557

RCV001200029

ClinVar Variation:

8089

HGVS (amino-acid)	Matching Registered Transcripts
NP_700476.1:p.Arg84Trp	CA119289 NM_153427.3:c.250C>T