Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA1139669221

Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 979099

ClinVar RCV Id: RCV001258149 RCV002570632

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001020018.1:p.Phe304Leu	CA049980 NM_001024847.2:c.910T>C CA351807977 NM_001024847.2:c.912T>A CA351807978 NM_001024847.2:c.912T>G