Allele Registry

Canonical Allele Identifier: PA2830160991

Gene: TBX5 HGNC NCBI

ClinVar Allele:

210211

ClinVar RCV:

RCV000195513

ClinVar Variation:

213826

HGVS (amino-acid)	Matching Registered Transcripts
NP_542448.1:p.Lys76_Arg84del	CA319857 NM_080717.4:c.226_252del