ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139743010
Gene: TMIE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
515000
ClinVar RCV Id:
RCV001698041
RCV003953070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357454.1:p.Lys77_Lys78dup
CA2358020
NM_001370525.1:c.229_234dup