Allele Registry

Canonical Allele Identifier: PA916057828

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000128626

ClinVar Variation:

139662

HGVS (amino-acid)	Matching Registered Transcripts
NP_542448.1:p.Ile51Phe	CA163401 NM_080717.4:c.151A>T