Canonical Allele Identifier: PA645484314
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 264111
ClinVar RCV Id: RCV000244681 RCV000292317 RCV000596892 RCV001088685 RCV003909885
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000183.2:p.Ala19Ser
CA6809736
NM_000192.3:c.55G>T