Allele Registry

Canonical Allele Identifier: PA2830390595

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000416326

ClinVar Variation:

375289

HGVS (amino-acid)	Matching Registered Transcripts
NP_852259.1:p.Leu135Arg	CA16044038 NM_181486.4:c.404T>G