ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA213037
Gene: EVC2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_667338.3:p.Arg885Ter
NM_147127.5:c.2653C>T