Canonical Allele Identifier: PA645493789
Gene: PITX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 347300
ClinVar RCV Id: RCV000264197 RCV000300585 RCV000304723 RCV000344354 RCV000355389 RCV000359478 RCV000393111 RCV003766004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_700476.1:p.Gln22Pro
CA3045542
NM_153427.3:c.65A>C