ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826008674
Gene: ELAC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1515771
ClinVar RCV Id:
RCV002048609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159434.1:p.Ala752Thr
CA398222209
NM_001165962.2:c.2254G>A