Allele Registry

Canonical Allele Identifier: PA2829616283

Gene: TBX1 HGNC NCBI

ClinVar Allele:

3190657

ClinVar RCV:

RCV003907094

ClinVar Variation:

3034724

HGVS (amino-acid)	Matching Registered Transcripts
NP_005983.1:p.Gln277Arg	CA410683540 NM_005992.1:c.830A>G