ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741965518
Gene: ELAC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2827303
ClinVar RCV Id:
RCV003741908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060597.4:p.Pro766Gln
CA398222362
NM_018127.7:c.2297C>A