Allele Registry

Canonical Allele Identifier: PA2825123359

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008555

RCV001266803

ClinVar Variation:

8087

HGVS (amino-acid)	Matching Registered Transcripts
NP_000316.2:p.Arg144Pro	CA119285 NM_000325.6:c.431G>C