ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825149770
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
800228
ClinVar RCV Id:
RCV000983898
RCV001577131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000347.2:p.Ala377Val
CA3510844
NM_000356.4:c.1130C>T