Canonical Allele Identifier: PA2573213539
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1445550

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366129.1:p.Ser440Arg
CA410684970
NM_001379200.1:c.1318A>C
CA410684982
NM_001379200.1:c.1320C>A
CA410684984
NM_001379200.1:c.1320C>G