Allele Registry

Canonical Allele Identifier: PA2830390555

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000128532

ClinVar Variation:

139591

HGVS (amino-acid)	Matching Registered Transcripts
NP_852259.1:p.Arg113Lys	CA232585 NM_181486.4:c.338G>A