ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645496558
Gene: EVC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349196
ClinVar RCV Id:
RCV000331568
RCV000971701
RCV003278784
RCV003950234
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714928.1:p.Ser759Asn
CA2836430
NM_153717.3:c.2276G>A