ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100320
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_667338.3:p.Ile283Arg
CA116170
NM_147127.5:c.848T>G