ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916048502
Gene: TMIE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47961
ClinVar RCV Id:
RCV000041233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357454.1:p.Lys77_Lys78delinsGlu
CA142260
NM_001370525.1:c.229_232delinsG