Allele Registry

Canonical Allele Identifier: PA916057839

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000416326

ClinVar Variation:

375289

HGVS (amino-acid)	Matching Registered Transcripts
NP_542448.1:p.Leu85Arg	CA16044038 NM_080717.4:c.254T>G