ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499231139
Gene: PITX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1071052
ClinVar RCV Id:
RCV001383407
RCV001780324
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000316.2:p.Arg96Trp
CA357985641
NM_000325.6:c.286C>T