Allele Registry

Canonical Allele Identifier: PA2830161067

Gene: TBX5 HGNC NCBI

ClinVar RCV:

RCV000008459

RCV000128627

RCV000473181

RCV002362570

ClinVar Variation:

7995

HGVS (amino-acid)	Matching Registered Transcripts
NP_542448.1:p.Arg187Trp	CA163404 NM_080717.4:c.559C>T