Allele Registry

Canonical Allele Identifier: PA232587

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000128532

ClinVar Variation:

139591

HGVS (amino-acid)	Matching Registered Transcripts
NP_000183.2:p.Arg113Lys	CA232585 NM_000192.3:c.338G>A