ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825791669
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2528611
ClinVar RCV Id:
RCV003275438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128717.1:p.Ala287Val
CA3510755
NM_001135245.2:c.860C>T