ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828592389
Gene: EML1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362340.1:p.Lys739Thr
CA7342907
NM_001375411.1:c.2216A>C