ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580243640
Gene: TBX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1977789
ClinVar RCV Id:
RCV002774893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366129.1:p.Val252Met
CA410683308
NM_001379200.1:c.754G>A