ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825791698
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2274370
ClinVar RCV Id:
RCV002812992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128717.1:p.Ala350Glu
CA361745125
NM_001135245.2:c.1049C>A