Canonical Allele Identifier: PA2830126184
Gene: TBX1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542377.1:p.Gln277Arg
CA410683540
NM_080646.2:c.830A>G