ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825791219
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1517136
ClinVar RCV Id:
RCV002027121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128716.1:p.Glu473del
CA3510855
NM_001135244.2:c.1419_1421del