Allele Registry

Canonical Allele Identifier: PA645484428

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000416326

ClinVar Variation:

375289

HGVS (amino-acid)	Matching Registered Transcripts
NP_000183.2:p.Leu135Arg	CA16044038 NM_000192.3:c.404T>G