ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830327821
Gene: PITX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_700475.1:p.Met200Val
CA3045453
NM_153426.3:c.598A>G