Allele Registry

Canonical Allele Identifier: PA104086

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000008458

ClinVar Variation:

7994

HGVS (amino-acid)	Matching Registered Transcripts
NP_000183.2:p.Gly80Arg	CA254300 NM_000192.3:c.238G>A CA386862966 NM_000192.3:c.238G>C