Allele Registry

Canonical Allele Identifier: PA2830390528

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000128626

ClinVar Variation:

139662

HGVS (amino-acid)	Matching Registered Transcripts
NP_852259.1:p.Ile101Phe	CA163401 NM_181486.4:c.301A>T