ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139743012
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_001357454.1:p.Lys77_Lys78del
CA142260
NM_001370525.1:c.229_232delinsG
CA2358019
NM_001370525.1:c.229_234del