Allele Registry

Canonical Allele Identifier: PA916057835

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000128532

ClinVar Variation:

139591

HGVS (amino-acid)	Matching Registered Transcripts
NP_542448.1:p.Arg63Lys	CA232585 NM_080717.4:c.188G>A