Allele Registry

Canonical Allele Identifier: PA2830390578

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000195513

ClinVar Variation:

213826

HGVS (amino-acid)	Matching Registered Transcripts
NP_852259.1:p.Lys126_Arg134del	CA319857 NM_181486.4:c.376_402del