Canonical Allele Identifier: PA2826271716
Gene: PITX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8089
ClinVar RCV Id: RCV000008557 RCV001200029
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001191328.1:p.Arg84Trp
CA119289
NM_001204399.1:c.250C>T