ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826008646
Gene: ELAC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1717141
ClinVar RCV Id:
RCV002296309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159434.1:p.Val712Ala
CA398222450
NM_001165962.2:c.2135T>C