ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742012094
Gene: EVC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2929071
ClinVar RCV Id:
RCV003781797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_667338.3:p.Leu836Phe
CA356143690
NM_147127.5:c.2506C>T