ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573213784
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1597028
ClinVar RCV Id:
RCV002127111
RCV003015339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358552.1:p.Ala441Val
CA3510837
NM_001371623.1:c.1322C>T