ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825790737
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_001128715.1:p.Ala490Thr
CA129134717
NM_001135243.2:c.1468G>A