Allele Registry

Canonical Allele Identifier: PA119294

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008558

RCV000271871

ClinVar Variation:

8090

HGVS (amino-acid)	Matching Registered Transcripts
NP_000316.2:p.Arg122His	CA119291 NM_000325.6:c.365G>A