ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119294
Gene: PITX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000316.2:p.Arg122His
NM_000325.6:c.365G>A