Canonical Allele Identifier: PA2830127021
Gene: TBX1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542378.1:p.Gln277Arg
CA410683540
NM_080647.1:c.830A>G