ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826271715
Gene: PITX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1693132
ClinVar RCV Id:
RCV002293567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191328.1:p.Val83Phe
CA357985369
NM_001204399.1:c.247G>T