ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580243635
Gene: TBX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2414263
ClinVar RCV Id:
RCV003106596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366129.1:p.Pro206Ala
CA410682850
NM_001379200.1:c.616C>G