ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100346
Gene: TMIE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3392
ClinVar RCV Id:
RCV000003559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671729.2:p.Arg92Trp
CA252747
NM_147196.3:c.274C>T