ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825791181
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1206122
ClinVar RCV Id:
RCV001573330
RCV001866045
RCV003399384
RCV004039408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128716.1:p.Ser375Leu
CA3510766
NM_001135244.2:c.1124C>T