ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742012032
Gene: EVC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2922844
ClinVar RCV Id:
RCV003788010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_667338.3:p.Tyr597_Leu598del
CA549707404
NM_147127.5:c.1788_1793del