ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826008680
Gene: ELAC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1909921
ClinVar RCV Id:
RCV002600549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159434.1:p.Arg757Lys
CA288074996
NM_001165962.2:c.2270G>A