ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825149732
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
352202
ClinVar RCV Id:
RCV000525257
RCV000613444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000347.2:p.Ala301Val
CA3510771
NM_000356.4:c.902C>T