ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645508649
Gene: TMIE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
262622
ClinVar RCV Id:
RCV000253873
RCV001552669
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671729.2:p.Lys130_Lys131del
CA142260
NM_147196.3:c.388_391delinsG
CA2358019
NM_147196.3:c.388_393del