Allele Registry

Canonical Allele Identifier: PA916057838

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000200855

ClinVar Variation:

213816

HGVS (amino-acid)	Matching Registered Transcripts
NP_542448.1:p.Gly75Arg	CA325430 NM_080717.4:c.223G>C