Allele Registry

Canonical Allele Identifier: PA325432

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000200855

ClinVar Variation:

213816

HGVS (amino-acid)	Matching Registered Transcripts
NP_000183.2:p.Gly125Arg	CA325430 NM_000192.3:c.373G>C