Canonical Allele Identifier: PA2580114233
Gene: PITX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2007681
ClinVar RCV Id: RCV002816394
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000316.2:p.Pro173Ser
CA357984248
NM_000325.6:c.517C>T