Allele Registry

Canonical Allele Identifier: PA111424

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008558

RCV000271871

ClinVar Variation:

8090

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191326.1:p.Arg115His	CA119291 NM_001204397.2:c.344G>A