ClinGen Allele Registry
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Canonical Allele Identifier:
PA913201266
Gene: TCOF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128715.1:p.Pro1472Leu
CA3511757
NM_001135243.2:c.4415C>T