ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580220149
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2108121
ClinVar RCV Id:
RCV003029388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358552.1:p.Ser417Leu
CA3510800
NM_001371623.1:c.1250C>T