ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826008694
Gene: ELAC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1423983
ClinVar RCV Id:
RCV001954946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159434.1:p.Pro768Leu
CA398222114
NM_001165962.2:c.2303C>T