Allele Registry

Canonical Allele Identifier: PA2825123330

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008562

RCV001200039

RCV002293409

RCV003242963

ClinVar Variation:

8094

HGVS (amino-acid)	Matching Registered Transcripts
NP_000316.2:p.Arg115His	CA119299 NM_000325.6:c.344G>A