Canonical Allele Identifier: PA2573213583
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1359322
ClinVar RCV Id: RCV001872225

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366129.1:p.Asp500Glu
CA10102786
NM_001379200.1:c.1500C>G
CA410685785
NM_001379200.1:c.1500C>A