Allele Registry

Canonical Allele Identifier: PA916077507

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000008458

ClinVar Variation:

7994

HGVS (amino-acid)	Matching Registered Transcripts
NP_852259.1:p.Gly80Arg	CA254300 NM_181486.4:c.238G>A CA386862966 NM_181486.4:c.238G>C