Allele Registry

Canonical Allele Identifier: PA916077494

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000008461

ClinVar Variation:

7997

HGVS (amino-acid)	Matching Registered Transcripts
NP_852259.1:p.Gln49Lys	CA254302 NM_181486.4:c.145C>A