Canonical Allele Identifier: PA2829758711
Gene: ETHE1 HGNC NCBI
ClinVar RCV:
RCV003498510
ClinVar Variation:
2756882
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055112.2:p.Leu215Arg
CA406174979
NM_014297.5:c.644T>G