Allele Registry

Canonical Allele Identifier: PA916077499

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000008462

ClinVar Variation:

7998

HGVS (amino-acid)	Matching Registered Transcripts
NP_852259.1:p.Ile54Thr	CA254304 NM_181486.4:c.161T>C