ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826909630
Gene: EVC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349178
ClinVar RCV Id:
RCV000276458
RCV002520258
RCV004021967
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293019.1:p.Glu488Lys
CA2836107
NM_001306090.2:c.1462G>A