ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119293
Gene: PITX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_700475.1:p.Arg115His
NM_153426.3:c.344G>A