Canonical Allele Identifier: PA2826271636
Gene: PITX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1693134
ClinVar RCV Id: RCV002293569

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001191327.1:p.Phe133Leu
CA357984522
NM_001204398.1:c.399C>G
CA357984523
NM_001204398.1:c.399C>A
CA357984529
NM_001204398.1:c.397T>C