ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580530953
Gene: EVC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2299299
ClinVar RCV Id:
RCV002865665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714928.1:p.Gly415Arg
CA2836036
NM_153717.3:c.1243G>C
CA2836037
NM_153717.3:c.1243G>A