ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645479210
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
352200
ClinVar RCV Id:
RCV000425058
RCV001085277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128715.1:p.Ala374Ser
CA3510764
NM_001135243.2:c.1120G>T