Canonical Allele Identifier: PA2741879563
Gene: TBX1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366129.1:p.Gln286Arg
CA410683540
NM_001379200.1:c.857A>G