ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826008707
Gene: ELAC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1506248
ClinVar RCV Id:
RCV002006588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159434.1:p.Val783Phe
CA8400787
NM_001165962.2:c.2347G>T