ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828436586
Gene: TMIE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287642
ClinVar RCV Id:
RCV000336777
RCV000362154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357453.1:p.Ser16Phe
CA2357952
NM_001370524.1:c.47C>T