Allele Registry

Canonical Allele Identifier: PA119298

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000008560

ClinVar Variation:

8092

HGVS (amino-acid)	Matching Registered Transcripts
NP_700476.1:p.Val83Leu	CA119297 NM_153427.3:c.247G>C