Canonical Allele Identifier: PA2830126115
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 934089
ClinVar RCV Id: RCV001202423
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542377.1:p.Asp225Asn
CA10102524
NM_080646.2:c.673G>A