ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA239233
Gene: TBCE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193652
ClinVar RCV Id:
RCV000173771
RCV000290879
RCV002516598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003184.1:p.Ile283Phe
CA239231
NM_003193.5:c.847A>T