Allele Registry

Canonical Allele Identifier: PA1139694246

Gene: TGFBR1 HGNC NCBI

ClinVar RCV:

RCV000197382

RCV000825630

RCV001380058

ClinVar Variation:

213896

HGVS (amino-acid)	Matching Registered Transcripts
NP_001293139.1:p.Glu232del	CA321828 NM_001306210.2:c.695_697del