ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826917035
Gene: TGFBR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2114646
ClinVar RCV Id:
RCV003042890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Val283Ala
CA374230551
NM_001306210.2:c.848T>C