ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825791714
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_001128717.1:p.Glu396del
CA3510855
NM_001135245.2:c.1188_1190del