ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741999201
Gene: EMILIN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443078.1:p.Arg733Cys
CA9861138
NM_052846.2:c.2197C>T