ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825933484
Gene: EMCN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153166.1:p.Leu196Val
CA3023946
NM_001159694.2:c.586C>G