ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826910444
Gene: EVC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293021.1:p.Thr372Met
CA2836012
NM_001306092.2:c.1115C>T