ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826917006
Gene: TGFBR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2089288
ClinVar RCV Id:
RCV003020424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Ser240Pro
CA374229746
NM_001306210.2:c.718T>C