Allele Registry

Canonical Allele Identifier: PA916020517

Gene: TGFBR1 HGNC NCBI

ClinVar RCV:

RCV000197297

RCV000507920

RCV002363012

ClinVar Variation:

213875

HGVS (amino-acid)	Matching Registered Transcripts
NP_001293139.1:p.Ser240Phe	CA321749 NM_001306210.2:c.719C>T