ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741918971
Gene: PITX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2607847
ClinVar RCV Id:
RCV003345860
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005020.1:p.Ala247Val
CA5662691
NM_005029.4:c.740C>T