Canonical Allele Identifier: PA2742024064
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2907894
ClinVar RCV Id: RCV003648973

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_852259.1:p.Ser30Arg
CA386863523
NM_181486.4:c.90C>G
CA386863524
NM_181486.4:c.90C>A
CA386863530
NM_181486.4:c.88A>C