ClinGen Allele Registry
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Canonical Allele Identifier:
PA119288
Gene: PITX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_700476.1:p.Trp133Ter
NM_153427.3:c.398G>A
NM_153427.3:c.399G>A