Canonical Allele Identifier: PA2573273710
Gene: ELAC2 HGNC NCBI
ClinVar RCV:
RCV001954946
ClinVar Variation:
1423983
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060597.4:p.Pro808Leu
CA398222114
NM_018127.7:c.2423C>T