Canonical Allele Identifier: PA658805208
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 518598
ClinVar RCV Id: RCV000620652 RCV000876591 RCV001821753 RCV003892392 RCV003437330
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542378.1:p.Arg442Pro
CA10102722
NM_080647.1:c.1325G>C