Allele Registry

Canonical Allele Identifier: PA163403

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000128626

ClinVar Variation:

139662

HGVS (amino-acid)	Matching Registered Transcripts
NP_000183.2:p.Ile101Phe	CA163401 NM_000192.3:c.301A>T