Allele Registry

Canonical Allele Identifier: PA2830327668

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000264197

RCV000300585

RCV000304723

RCV000344354

RCV000355389

RCV000359478

RCV000393111

RCV003766004

ClinVar Variation:

347300

HGVS (amino-acid)	Matching Registered Transcripts
NP_700475.1:p.Gln68Pro	CA3045542 NM_153426.3:c.203A>C