Canonical Allele Identifier: PA2499301929
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1120643
ClinVar RCV Id: RCV001450648 RCV002432252
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_852259.1:p.Pro42Leu
CA6809714
NM_181486.4:c.125C>T