Canonical Allele Identifier: PA2830327766
Gene: PITX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1693134
ClinVar RCV Id: RCV002293569

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_700475.1:p.Phe133Leu
CA357984522
NM_153426.3:c.399C>G
CA357984523
NM_153426.3:c.399C>A
CA357984529
NM_153426.3:c.397T>C