ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA200771
Gene: EVC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_667338.3:p.Thr455Arg
CA200770
NM_147127.5:c.1364C>G