ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830327932
Gene: PITX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_700476.1:p.Arg43Trp
CA357985641
NM_153427.3:c.127C>T