ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580220143
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2136251
ClinVar RCV Id:
RCV003037080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358552.1:p.Ala397Thr
CA361744313
NM_001371623.1:c.1189G>A