Canonical Allele Identifier: PA2573213580
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1397248
ClinVar RCV Id: RCV001906054
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366129.1:p.Ser490Leu
CA10102774
NM_001379200.1:c.1469C>T