ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139685377
Gene: TGFBI
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001157894
ClinVar Variation:
907796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000349.1:p.Pro501Ser
CA3420427
NM_000358.3:c.1501C>T