ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825791175
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2466413
ClinVar RCV Id:
RCV003190769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128716.1:p.Ser369Phe
CA3510757
NM_001135244.2:c.1106C>T