ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826025374
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_001159608.1:p.Tyr517_Leu518del
CA549707404
NM_001166136.1:c.1548_1553del