ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3083956299
Gene: EME1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689676.2:p.Ile350Thr
CA8647270
NM_152463.4:c.1049T>C