ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645493799
Gene: PITX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375438
ClinVar RCV Id:
RCV000416552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_700476.1:p.Arg91Gly
CA16044256
NM_153427.3:c.271C>G