Canonical Allele Identifier: PA104086
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 7994
ClinVar RCV Id: RCV000008458

Amino-acid Alleles

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