ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829616183
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_005983.1:p.Val243Met
CA410683308
NM_005992.1:c.727G>A