ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645496450
Gene: EVC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283131
ClinVar RCV Id:
RCV000260082
RCV001303664
RCV001828193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714928.1:p.Glu514Lys
CA2836151
NM_153717.3:c.1540G>A