Allele Registry

Canonical Allele Identifier: PA2830160964

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000008458

ClinVar Variation:

7994

HGVS (amino-acid)	Matching Registered Transcripts
NP_542448.1:p.Gly30Arg	CA254300 NM_080717.4:c.88G>A CA386862966 NM_080717.4:c.88G>C