Canonical Allele Identifier: PA645484500
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 264163
ClinVar RCV Id: RCV000244075 RCV000489388 RCV001083368 RCV001293126 RCV003909886
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000183.2:p.Arg279Gln
CA6809488
NM_000192.3:c.836G>A