ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825292996
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3029965
ClinVar RCV Id:
RCV003892256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008657.1:p.Ala490Thr
CA129134717
NM_001008657.3:c.1468G>A