Allele Registry

Canonical Allele Identifier: PA096577

Gene: TBX1 HGNC NCBI

ClinVar RCV:

RCV000008003

ClinVar Variation:

7567

HGVS (amino-acid)	Matching Registered Transcripts
NP_542377.1:p.His194Gln	CA254219 NM_080646.2:c.582C>G CA410682814 NM_080646.2:c.582C>A