ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645479198
Gene: TCOF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000347.2:p.Ala577Val
CA3511063
NM_000356.4:c.1730C>T