ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116171
Gene: EVC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3385
ClinVar RCV Id:
RCV000003552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159608.1:p.Ile203Arg
CA116170
NM_001166136.1:c.608T>G