ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825791176
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2798139
ClinVar RCV Id:
RCV003646133
RCV004371602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128716.1:p.Gln370Glu
CA3510760
NM_001135244.2:c.1108C>G