ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830126881
Gene: TBX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
949596
ClinVar RCV Id:
RCV001221091
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542378.1:p.Met207Val
CA410682980
NM_080647.1:c.619A>G