ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645479204
Gene: TCOF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128715.1:p.His17Arg
CA16604898
NM_001135243.2:c.50A>G