Canonical Allele Identifier: PA2830368402
Gene: ELAC2 HGNC NCBI
ClinVar RCV:
RCV003741908
ClinVar Variation:
2827303
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_776065.1:p.Pro765Gln
CA398222362
NM_173717.2:c.2294C>A