Canonical Allele Identifier: PA1139745038
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 951216
ClinVar RCV Id: RCV001223075 RCV003163735 RCV003393895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366129.1:p.Pro503Arg
CA10102788
NM_001379200.1:c.1508C>G