Allele Registry

Canonical Allele Identifier: PA104095

Gene: TBX5 HGNC NCBI

ClinVar Allele:

23037

ClinVar RCV:

RCV000008462

ClinVar Variation:

7998

HGVS (amino-acid)	Matching Registered Transcripts
NP_000183.2:p.Ile54Thr	CA254304 NM_000192.3:c.161T>C