ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645508650
Gene: TMIE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
227101
ClinVar RCV Id:
RCV000223108
RCV000727294
RCV003929881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671729.2:p.Lys129_Lys131del
CA2358021
NM_147196.3:c.385_393del