Canonical Allele Identifier: PA2741857289
Gene: ETHE1 HGNC NCBI
ClinVar RCV:
RCV003498510
ClinVar Variation:
2756882
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307797.1:p.Leu92Arg
CA406174979
NM_001320868.2:c.275T>G