ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3070333152
Gene: EVC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_667338.3:p.Ala1253Val
CA356146999
NM_147127.5:c.3758C>T