ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825123352
Gene: PITX2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000023116
ClinVar Variation:
30197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000316.2:p.Lys141Glu
CA129016
NM_000325.6:c.421A>G