Allele Registry

Canonical Allele Identifier: PA2825123347

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008557

RCV001200029

ClinVar Variation:

8089

HGVS (amino-acid)	Matching Registered Transcripts
NP_000316.2:p.Arg137Trp	CA119289 NM_000325.6:c.409C>T