Canonical Allele Identifier: PA2830368434
Gene: ELAC2 HGNC NCBI
ClinVar RCV:
RCV002805571
ClinVar Variation:
1986658
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_776065.1:p.Leu793Phe
CA398222198
NM_173717.2:c.2377C>T