Allele Registry

Canonical Allele Identifier: PA246273

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000179024

RCV001852224

RCV002293425

ClinVar Variation:

197883

HGVS (amino-acid)	Matching Registered Transcripts
NP_700476.1:p.Arg91Gln	CA246272 NM_153427.3:c.272G>A