Allele Registry

Canonical Allele Identifier: PA645493792

Gene: PITX2 HGNC NCBI

ClinVar RCV:

RCV000416527

ClinVar Variation:

375437

HGVS (amino-acid)	Matching Registered Transcripts
NP_700476.1:p.Pro64Leu	CA16044258 NM_153427.3:c.191C>T