Canonical Allele Identifier: PA2826008678
Gene: ELAC2 HGNC NCBI
ClinVar RCV:
RCV002805571
ClinVar Variation:
1986658
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159434.1:p.Leu754Phe
CA398222198
NM_001165962.2:c.2260C>T