ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645479211
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
352202
ClinVar RCV Id:
RCV000525257
RCV000613444
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128715.1:p.Ala378Val
CA3510771
NM_001135243.2:c.1133C>T