ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825149754
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1305579
ClinVar RCV Id:
RCV001768786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000347.2:p.Ala348Thr
CA3510805
NM_000356.4:c.1042G>A