Allele Registry

Canonical Allele Identifier: PA916020521

Gene: TGFBR1 HGNC NCBI

ClinVar RCV:

RCV000013350

RCV000030540

RCV000244262

RCV000442105

RCV000617152

RCV000845292

RCV003224094

ClinVar Variation:

12524

HGVS (amino-acid)	Matching Registered Transcripts
NP_001293139.1:p.Ser245Leu	CA008855 NM_001306210.2:c.734C>T