ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246273
Gene: PITX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_700476.1:p.Arg91Gln
CA246272
NM_153427.3:c.272G>A