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: PA2826917097

Gene: TGFBR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072734

ClinVar RCV Id: RCV004013756

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001293139.1:p.Phe412Leu	CA374233059 NM_001306210.2:c.1234T>C CA374233068 NM_001306210.2:c.1236C>A CA374233070 NM_001306210.2:c.1236C>G