ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580420709
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_060597.4:p.Val752Ala
CA398222450
NM_018127.7:c.2255T>C