ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499247505
Gene: TGFBR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213891
ClinVar RCV Id:
RCV001314592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Ile415Val
CA324752
NM_001306210.2:c.1243A>G