Allele Registry

Canonical Allele Identifier: PA106735

Gene: PITX1 HGNC NCBI

ClinVar RCV:

RCV000007934

ClinVar Variation:

7505

HGVS (amino-acid)	Matching Registered Transcripts
NP_002644.4:p.Glu130Lys	CA118852 NM_002653.5:c.388G>A