ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829767823
Gene: EMC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055488.1:p.Leu208Val
CA4842454
NM_014673.5:c.622C>G