Allele Registry

Canonical Allele Identifier: PA2825123331

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000416527

ClinVar Variation:

375437

HGVS (amino-acid)	Matching Registered Transcripts
NP_000316.2:p.Pro117Leu	CA16044258 NM_000325.6:c.350C>T